1. Lowe Syndrome Association Charnas LR, Nussbaum RL (1994) Lowe syndrome (The oculocerebrorenal syndrome of Lowe). http://www.lowesyndrome.org/lwls/lwls-references.html

Home Page Publications Living with Lowe Syndrome Medical and Scientific References LSA Information About the LSA News Donations Membership ... LSA-Talk Lowe Syndrome What is Lowe Syndrome? FAQ Diagnosis Testing Labs ... Living with LS Booklet Conferences 2004 Plans Past Conferences Research Research Fund Current RFP Grants International French LSA UK Trust Australia Links Living with Lowe Syndrome A Guide for Parents, Friends, and Professionals (©2000) Table Of Contents Foreword I. Frequently Asked Questions II. Background III. Medical Features IV. Genetics V. Research VI. Development and Education VII. Parents and Families: Living with LS VIII. The Lowe Syndrome Association IX. Glossary X.Medical and Scientific References X. Medical and Scientific References Following is a list of several significant papers published in recent years: Attree O, Olivos IM, Okabe I, Bafley LC, Nelson DL, Lewis RA, McInnes RR, Nussbaum RL (1992):

2. Oculocerebrorenal Syndrome oculocerebrorenal syndrome up. Related topics http://bioresearch.ac.uk/browse/mesh/detail/C0028860L0028860.html

Oculocerebrorenal Syndrome [up] Related topics: other Down Syndrome Fragile X Syndrome Homocystinuria Lowe syndrome mutation database The Lowe Syndrome Mutation Database is produced by Genetic Disease Research Branch within the US National Human Genome Research Institute (NHGRI). "Lowe oculocerebrorenal syndrome is an X-linked disorder caused by mutations in the OCRL1 gene, which encodes a 105- kDa Golgi protein with phosphatidylinositol (4,5) bisphosphate 5- phosphatase activity." Data and information provided include: Reported OCRL1 mutations causing Lowe Syndrome; Numbering of exons, nucleic acid sequence, and protein sequence used in this database; List of investigators; and References. Information on new mutations may be submitted online. Database [Publication Type] Databases, Genetic Molecular Sequence Data Oculocerebrorenal Syndrome ... Phosphoric Monoester Hydrolases Last modified 28/Mar/2003 [Low Graphics]

3. EMedicine - Oculocerebrorenal Dystrophy (Lowe Syndrome) : Article Excerpt By: Me Related Terms Lowe's syndrome, oculocerebrorenal syndrome of Lowe, OCRL, renal Fanconi syndrome, congenital cataracts, http://www.emedicine.com/ped/byname/oculocerebrorenal-dystrophy-%28lowe-syndrome

(advertisement) Excerpt from Oculocerebrorenal Dystrophy (Lowe Syndrome) Synonyms, Key Words, and Related Terms: Lowe's syndrome, oculocerebrorenal syndrome of Lowe, OCRL, renal Fanconi syndrome, congenital cataracts, neonatal or infantile hypotonia, mental retardation, mental impairment, renal tubular dysfunction Please click here to view the full topic text: Oculocerebrorenal Dystrophy (Lowe Syndrome) Background: In 1952, Lowe and colleagues described an infant with congenital cataracts and mental retardation. When more patients were described, the phenotype was expanded to include the renal Fanconi syndrome, and the X-linked inheritance pattern was noted. The diagnostic triad of the oculocerebrorenal syndrome of Lowe (OCRL) includes congenital cataracts, neonatal or infantile hypotonia with subsequent mental impairment, and renal tubular dysfunction. Pathophysiology: OCRL is caused by an inherited mutation in the gene . The OCRL1 protein is a phosphatidylinositol 4,5-bisphosphate (PtdIns[4,5]P2) 5 phosphatase that is localized in the Golgi apparatus and appears to play a role in cellular trafficking. Deficiency of this enzyme may impair proper intracellular protein sorting, especially within polarized cells such as the renal epithelium and the optic lens. This may explain the epithelial cell phenotype, ie, the congenital cataracts and renal tubular dysfunction observed in OCRL. Mortality/Morbidity: Slowly progressive renal failure is the major cause of mortality in patients with OCRL. Fanconi syndrome of the renal tubule predisposes these patients to dehydration and metabolic imbalance, which can be severe. Patients with OCRL also have a tendency to develop pneumonia due to hypotonia and poor cough reflex. Other causes of death include infection and status epilepticus, and sudden unexplained death can occur. Death usually occurs in the second or third decade of life.

4. Lowe Syndrome Mutation Database Lowe oculocerebrorenal syndrome is an Xlinked disorder caused by mutationsin the OCRL1 gene, which encodes a 105- kDa Golgi protein with http://bioresearch.ac.uk/whatsnew/detail/3025683.html

Back to whats new page. Lowe syndrome mutation database The Lowe Syndrome Mutation Database is produced by Genetic Disease Research Branch within the US National Human Genome Research Institute (NHGRI). "Lowe oculocerebrorenal syndrome is an X-linked disorder caused by mutations in the OCRL1 gene, which encodes a 105- kDa Golgi protein with phosphatidylinositol (4,5) bisphosphate 5- phosphatase activity." Data and information provided include: Reported OCRL1 mutations causing Lowe Syndrome; Numbering of exons, nucleic acid sequence, and protein sequence used in this database; List of investigators; and References. Information on new mutations may be submitted online. Database [Publication Type] Phosphoric Monoester Hydrolases Molecular Sequence Data Oculocerebrorenal Syndrome Last modified 11/Jan/2002 [Low Graphics]

5. Oculocerebrorenal Syndrome oculocerebrorenal syndrome . (also called Lowe's syndrome), hypotonia at birth with developmental delay. http://www.amersham-health.com/medcyclopaedia/Volume%20VII/OCULOCEREBRORENAL%20S

Medcyclopaedia About Medcyclopaedia Amersham Health Search for: Type a word or a phrase. All forms of the word are searchable. Advanced search Browse entry words starting with: A B C D ... Other characters Try our Medcyclopaedia Premium Edition with added tools and functionality tailored to make your working day easier. The following tools are presently available: Expanded search *For Medical Professionals only, registration required Oculocerebrorenal syndrome, (also called Lowe's syndrome), hypotonia at birth with developmental delay. Delayed physical development, cataract and glaucoma, and renal tubular dysfunction are the main features. There is also hypophosphataemic rickets. Radiologically, the features are those of osteoporosis and rickets. For a general description, see Lowes syndrome HC The Encyclopaedia of Medical Imaging Volume VII Welcome to Medcyclopaedia. This site is open to a public audience, still we want to know a little more about our visitors. Please tick off the boxes that match your profile. Do you live in Europe?

6. EMedicine - Oculocerebrorenal Syndrome : Article By DM Alcorn, MD oculocerebrorenal syndrome oculocerebrorenal syndrome (OCRS) is an X-linkedrecessive metabolic disorder described by Lowe and coworkers in 1952. http://www.emedicine.com/oph/topic516.htm

(advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Ophthalmology Metabolic Disorders Oculocerebrorenal Syndrome Last Updated: March 30, 2001 Rate this Article Email to a Colleague Synonyms and related keywords: Lowe syndrome AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: DM Alcorn, MD , Director of Pediatric Ophthalmology, Lucile Packard Children's Hospital, Department of Ophthalmology, Stanford University School of Medicine DM Alcorn, MD, is a member of the following medical societies: American Academy of Ophthalmology , and American Association for Pediatric Ophthalmology and Strabismus Editor(s): Andrew Lawton, MD , Medical Director of Neuro-Ophthalmology Service, Section of Ophthalmology, Baptist Eye Center, Baptist Health Medical Center; Donald S Fong, MD, MPH , Assistant Clinical Professor of Ophthalmology, UCLA School of Medicine; Consulting Physician, Department of Ophthalmology, Southern California Permamente Medical Group; Brian R Younge, MD

7. Oculocerebrorenal Syndrome Of Lowe Homo sapiens. OCRL. oculocerebrorenal syndrome of Lowe http://telethon.bio.unipd.it/GETMaps/retina/ESTs/Hs.181060.html

UniGene-Homo sapiens PubMed Entrez BLAST OMIM ... Structure Search Homo sapiens Rattus norvegicus Mus musculus for UniGene Home Page UniGene Homo sapiens Mus musculus Rattus norvegicus Hs.181060 Homo sapiens OCRL Oculocerebrorenal syndrome of Lowe SEE ALSO LocusLink OMIM SELECTED MODEL ORGANISM PROTEIN SIMILARITIES H. sapiens PID:g1420920 M. musculus PID:g2766529 - inositol polyphosphate 5-phosphatase II R. norvegicus PID:g2708493 - synaptojanin II D. melanogaster PID:e1202142 - 39E1.h C. elegans PID:e1180942 S. cerevisiae SP:P40559 - HYPOTHETICAL 108.4 KD PROTEIN IN BET1-PAN1 INTERGENIC REGION MAPPING INFORMATION Chromosome X MIM Gene Map Gene Map 98 , Chr.X, Gene Map 98 , Chr.X, Gene Map 98 , Chr.X, Gene Map 98 SHGC-9872 , Chr.X, Whitehead map UTR-9872 , Chr.X dbSTS entries EXPRESSION INFORMATION cDNA sources Brain, Breast, CNS, Colon, Eye, Germ Cell, Kidney, Lung, Ovary, Pancreas, Parathyroid, Placenta, Prostate, Stomach, Testis, Tonsil, Uterus, Whole embryo SAGE Gene to Tag mapping mRNA/GENE SEQUENCES (6) Homo sapiens DNA sequence from PAC 454M7 on chromosome Xq25-26.3. Contains the OCRL1 gene for Lowe Oculocerebrorenal Syndrome protein OCRL-1. Contains ESTs, STSs and GSSs Human fetal brain oculocerebrorenal syndrome (OCRL1) mRNA, complete cds

8. EMedicine - Oculocerebrorenal Dystrophy (Lowe Syndrome) : Article By Melissa Was The diagnostic triad of the oculocerebrorenal syndrome of Lowe (OCRL) includescongenital cataracts, neonatal or infantile hypotonia with subsequent mental http://www.emedicine.com/PED/topic1329.htm

(advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease Oculocerebrorenal Dystrophy (Lowe Syndrome) Last Updated: February 22, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: Lowe's syndrome, oculocerebrorenal syndrome of Lowe, OCRL, renal Fanconi syndrome, congenital cataracts, neonatal or infantile hypotonia, mental retardation, mental impairment, renal tubular dysfunction AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: Melissa Wasserstein, MD , Assistant Professor, Departments of Human Genetics and Pediatrics, Mount Sinai School of Medicine Melissa Wasserstein, MD, is a member of the following medical societies: American Society of Human Genetics Editor(s): Ian Krantz, MD , Assistant Professor, Department of Pediatrics, University of Pennsylvania and Children's Hospital of Philadelphia; Robert Konop, PharmD

9. NEJM -- Clinical And Laboratory Findings In The Oculocerebrorenal Syndrome Of Lo Original Article from The New England Journal of Medicine Clinical and laboratoryfindings in the oculocerebrorenal syndrome of Lowe, with special reference http://content.nejm.org/cgi/content/short/324/19/1318

HOME SEARCH CURRENT ISSUE PAST ISSUES ... HELP Previous Volume 324:1318-1325 May 9, 1991 Number 19 Next Clinical and laboratory findings in the oculocerebrorenal syndrome of Lowe, with special reference to growth and renal function LR Charnas, I Bernardini, D Rader, JM Hoeg, and WA Gahl Table of Contents Find Similar Articles in the Journal Notify a friend about this article Add to Personal Archive ... Related Articles in Medline Articles in Medline by Author: Charnas, L. R. Gahl, W. A. Medline Citation Abstract Source Information Unit on Neurogenetics, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892. This article has been cited by other articles: Gahl, W. A., Brantly, M., Kaiser-Kupfer, M. I., Iwata, F., Hazelwood, S., Shotelersuk, V., Duffy, L. F., Kuehl, E. M., Troendle, J., Bernardini, I. (1998). Genetic Defects and Clinical Characteristics of Patients with a Form of Oculocutaneous Albinism (Hermansky-Pudlak Syndrome). N Engl J Med [Abstract] [Full Text] ANIKSTER, Y., LUCERO, C., GUO, J., HUIZING, M., SHOTELERSUK, V., BERNARDINI, I., McDOWELL, G., IWATA, F., KAISER-KUPFER, M. I., JAFFE, R., THOENE, J., SCHNEIDER, J. A., GAHL, W. A. (2000). Ocular Nonnephropathic Cystinosis: Clinical, Biochemical, and Molecular Correlations. Pediatr Res [Abstract] [Full Text] Ungewickell, A. J., Majerus, P. W. (1999). Increased levels of plasma lysosomal enzymes in patients with Lowe syndrome.

10. EMedicine - Fanconi Syndrome : Article Excerpt By: Adrian Spitzer, MD with hypophosphatemic rickets, oculocerebrorenal syndrome, oculocerebrorenal syndrome of Lowe, Lowe syndrome, Lowe's http://www.emedicine.com/ped/byname/fanconi-syndrome.htm

(advertisement) Excerpt from Fanconi Syndrome Synonyms, Key Words, and Related Terms: Fanconi's syndrome, Fanconi anemia, Fanconi's anemia, primary Fanconi syndrome, inherited Fanconi syndrome, secondary Fanconi syndrome, acquired Fanconi syndrome, idiopathic Fanconi syndrome, congenital aplastic anemia, congenital pancytopenia, nephrotic-glucosuric dwarfism with hypophosphatemic rickets, oculocerebrorenal syndrome, oculocerebrorenal syndrome of Lowe, Lowe syndrome, Lowe's syndrome, Lowe-Terrey-MacLachlan syndrome, vitamin D-dependent rickets, cystinosis, cystine storage disease, De Toni–Fanconi syndrome, Lignac-Fanconi syndrome, Wilson disease, Wilson’s disease, galactosemia, glycogen storage disease Please click here to view the full topic text: Fanconi Syndrome Background: The renal syndrome that is identified with the Swiss pediatrician Guido Fanconi was actually described in parts and under various names by several investigators who preceded him. The first investigator was Abderhalden, who, in 1903, found cystine crystals in the liver and spleen of a 21-month-old infant and called the disease “a familial cystine diathesis." In 1924, Lignac described 3 such children who presented with severe rickets and growth retardation. In 1931, Fanconi described a child who had glucosuria and albuminuria in addition to rickets and dwarfism. Two years later, de Toni added hypophosphatemia to the clinical picture, and, soon after, Debre et al found large amounts of organic acids in the urine of an 11-year-old girl.

11. NEJM -- Clinical And Laboratory Findings In The Oculocerebrorenal Syndrome Of Lo Clinical and laboratory findings in the oculocerebrorenal syndrome of Lowe, withspecial reference to growth and renal function LR Charnas, I Bernardini, D http://content.nejm.org/cgi/content/abstract/324/19/1318

HOME SEARCH CURRENT ISSUE PAST ISSUES ... HELP Previous Volume 324:1318-1325 May 9, 1991 Number 19 Next Clinical and laboratory findings in the oculocerebrorenal syndrome of Lowe, with special reference to growth and renal function LR Charnas, I Bernardini, D Rader, JM Hoeg, and WA Gahl Table of Contents Find Similar Articles in the Journal Notify a friend about this article Add to Personal Archive ... Related Articles in Medline Articles in Medline by Author: Charnas, L. R. Gahl, W. A. Medline Citation Abstract Source Information Unit on Neurogenetics, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892. This article has been cited by other articles: Gahl, W. A., Brantly, M., Kaiser-Kupfer, M. I., Iwata, F., Hazelwood, S., Shotelersuk, V., Duffy, L. F., Kuehl, E. M., Troendle, J., Bernardini, I. (1998). Genetic Defects and Clinical Characteristics of Patients with a Form of Oculocutaneous Albinism (Hermansky-Pudlak Syndrome). N Engl J Med [Abstract] [Full Text] ANIKSTER, Y., LUCERO, C., GUO, J., HUIZING, M., SHOTELERSUK, V., BERNARDINI, I., McDOWELL, G., IWATA, F., KAISER-KUPFER, M. I., JAFFE, R., THOENE, J., SCHNEIDER, J. A., GAHL, W. A. (2000). Ocular Nonnephropathic Cystinosis: Clinical, Biochemical, and Molecular Correlations. Pediatr Res [Abstract] [Full Text] Ungewickell, A. J., Majerus, P. W. (1999). Increased levels of plasma lysosomal enzymes in patients with Lowe syndrome.

12. Lowe Oculocerebrorenal Syndrome Lowe oculocerebrorenal syndrome This disease is described in an article in GeneReviews. Copyright 2002 SimulConsultInc. http://www.simulconsult.com/resources/c0028860.html

Lowe oculocerebrorenal syndrome This disease is described in an article in GeneReviews SimulConsult Inc.

13. Short Description Of Cell Lines. Pathology: Lowe Oculocerebrorenal Syndrome *309 Version 4.200205, Short description of cell lines. Pathology Loweoculocerebrorenal syndrome *309000 OMIM record. By selecting http://www.biotech.ist.unige.it/cldb/pat110.html

Version Short description of cell lines. Pathology: Lowe oculocerebrorenal syndrome OMIM record By selecting the cell line name , you will receive the detailed description of the cell line By selecting one of the terms between parentheses, you will receive the list of all relevant cell lines You can search any term of the list by using the 'Find' utility of your browser human, Caucasian skin, fibroblast GEIMM By Beatrice...

14. GASNet Anesthesiology: Lowe Syndrome Lowe Syndrome. oculocerebrorenal syndrome -. ·. Cataracts, glaucoma, strabismus http://gasnet.med.yale.edu/pediatric-syndromes/lowe.php

15. IGF105/85 FFF1051985 Morphology fibroblast Species human, Caucasian male; Tissue skin,fibroblast; Pathology Lowe oculocerebrorenal syndrome Depositor Laboratorio http://www.biotech.ist.unige.it/cldb/cl2472.html

16. OCRL 274. CTTTGAA^TCTgTGAAGGAACA. Lowe oculocerebrorenal syndrome. 1. CD002182. 285 http://archive.uwcm.ac.uk/uwcm/mg/ns/4/119461.html

OCRL Small deletions Accession Number Location/ codon Deletion Phenotype Reference CTTTGAA^TCTgTGAAGGAACA Lowe oculocerebrorenal syndrome GGCTGTA^GAGagAGGTTTGCAT Lowe oculocerebrorenal syndrome ATTTCAC^AACaccACCTTTTGCA Lowe oculocerebrorenal syndrome AATAAG^AAAGaCCTTCAGAGA Lowe oculocerebrorenal syndrome CCCCACT^TATaagtatGACTCTAAAA Lowe oculocerebrorenal syndrome TGGAGA^GGAAcAAATGTTAAT Lowe oculocerebrorenal syndrome GAGAGGA^ACAaATGTTAATCA Lowe oculocerebrorenal syndrome AAATGAC^TTCcttcCTTCCTTAGA Lowe oculocerebrorenal syndrome AATGTG^AAGTtTCGGCAACTA Lowe oculocerebrorenal syndrome ACTACAA^AAGgagAAGTTCCAGA Lowe oculocerebrorenal syndrome AGCAAC^AATGgACAGGTTCCC Lowe oculocerebrorenal syndrome ACTTAAT^GACagccagtactgcaAGCCATGGCT Lowe oculocerebrorenal syndrome AGCAAA^GACTctGTAACCATCC Lowe oculocerebrorenal syndrome CAAAGAC^TCTgtAACCATCCTG Lowe oculocerebrorenal syndrome GCCGT^ATGAAaAGACCAATCC Lowe oculocerebrorenal syndrome AG_I19E20_GAG^GACCTgTTCCAGACCC Lowe oculocerebrorenal syndrome CAACCAC^TCTgtGGCTGAAGCA Lowe oculocerebrorenal syndrome TTAAAAACAG_I21E22_gtgatctcccag^CTTCCGAGAT Lowe oculocerebrorenal syndrome TCCACCC^AACcTTATGGCAAG Lowe oculocerebrorenal syndrome References 1 - Lin (1997) Am J Hum Genet 2 - Monnier (2000) Hum Mutat ... Am J Hum Genet 5 - Gal (2001) OCRL Locus-specific database Unpublished data 6 - Lin (1998) Mol Genet Metab ... Hum Mol Genet HGMD

17. Oculocerebrorenal Syndrome only. oculocerebrorenal syndrome,, Print this article, (also calledLowe's syndrome), hypotonia at birth with developmental delay. http://www.amershamhealth.com/medcyclopaedia/Volume VII/OCULOCEREBRORENAL SYNDRO

Medcyclopaedia About Medcyclopaedia Amersham Health Search for: Type a word or a phrase. All forms of the word are searchable. Advanced search Browse entry words starting with: A B C D ... Other characters Try our Medcyclopaedia Premium Edition with added tools and functionality tailored to make your working day easier. The following tools are presently available: Expanded search *For Medical Professionals only, registration required Oculocerebrorenal syndrome, (also called Lowe's syndrome), hypotonia at birth with developmental delay. Delayed physical development, cataract and glaucoma, and renal tubular dysfunction are the main features. There is also hypophosphataemic rickets. Radiologically, the features are those of osteoporosis and rickets. For a general description, see Lowes syndrome HC The Encyclopaedia of Medical Imaging Volume VII Welcome to Medcyclopaedia. This site is open to a public audience, still we want to know a little more about our visitors. Please tick off the boxes that match your profile. Do you live in Europe?

18. Lowe Oculocerebrorenal Syndrome Disease Lowe oculocerebrorenal syndrome. OMIM number 309000 http://archive.uwcm.ac.uk/uwcm/mg/fidd/pages/1366.html

Disease : Lowe oculocerebrorenal syndrome OMIM number : Body System : Eye disorder Type : Inheritance pattern : X-Linked Incidence/prevalence : P Population surveyed : UK Date of survey : Number of cases : Size of population surveyed : Frequency figure (1 in ...) : Frequency figure for females : Method (direct/indirect) : Reference : Martin VAF, Carson NAJ. Inborn metabolic disorders with associated ocular lesions in Northern Ireland. Trans Ophthalmol Soc UK 1967:87;847-870. Comments :

19. Retina International's Scientific Newsletter - Syndrome Loci The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate5-phosphatase. http://www.retina-international.com/sci-news/syndrom.htm

Retina International's Scientific Newsletter Disease Database Syndromes Recent update from: 08.02.2001 Disease Gene locus MIM Gene Gene MIM MoI Assignment Linked Marker [cM] Remarks References ADRP and sensorineural deafness ad 9q34-ter D9S121, ASS Extreme variable age of onset First subjective problems in the third decade Slowly progressive Kearns-Sayre syndrome KS mt mitochondrial Lowe Oculocerebrorenal Syndrome OCRL xl Inborn error of inositol phosphate metabolism NARP syndrome ATPase 6 mt mitochondrial Norrie disease ND NDP xl tel- DXS7 (L1.28) -MAOB-NDP- DXS426-cen Affects 1:100000 Severe Mental Retardation, Spasticity, and Tapetoretinal Degeneration ar Parents were at least first cousins Stickler syndrome STL ad MoI = Mode of Inheritance: a: autosomal, ad: autosomal dominant, ar: autosomal recessive, xl: x-linked, mt: mitochondrial References Attree,O., Olivos,I.M., Okabe,I., Bailey,L.C., Nelson,D.L., Lewis,R.A., McInnes,R.R., and Nussbaum,R.L. The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase. 1992; Nature. 358: 239-242. Link to PudMed Goto Top Berger,W., Meindl,A., van de Pol,T.J., Cremers,F.P., Ropers,H.H., Doerner,C., Monaco,A., Bergen,A.A.B., Lebo,R., Warburg,M., and et al. Isolation of a candidate gene for Norrie disease by positional cloning. 1992; Nat.Genet. 1: 199-203.

20. OCRL CM971085, 278, aCAATAA, Gln-Term, Lowe oculocerebrorenal syndrome,1. CM011445, 280, TGG-TAG, Trp-Term, Lowe oculocerebrorenal syndrome,2. http://www.uwcm.ac.uk/uwcm/mg/ns/1/119461.html

OCRL Nucleotide substitutions (missense / nonsense) Accession Number Codon Nucleotide Amino acid Phenotype Reference aCAA-TAA Gln-Term Lowe oculocerebrorenal syndrome TGG-TAG Trp-Term Lowe oculocerebrorenal syndrome CGA-CCA Arg-Pro Lowe oculocerebrorenal syndrome tCGA-TGA Arg-Term Lowe oculocerebrorenal syndrome GGG-GAG Gly-Glu Lowe oculocerebrorenal syndrome GTC-GGC Val-Gly Lowe oculocerebrorenal syndrome cCAT-TAT His-Tyr Lowe oculocerebrorenal syndrome tCAA-TAA Gln-Term Lowe oculocerebrorenal syndrome gCAG-TAG Gln-Term Lowe oculocerebrorenal syndrome GGA-GAA Gly-Glu Lowe oculocerebrorenal syndrome gAAT-GAT Asn-Asp Lowe oculocerebrorenal syndrome GAC-GGC Asp-Gly Lowe oculocerebrorenal syndrome TTT-TCT Phe-Ser Lowe oculocerebrorenal syndrome TGG-TAG Trp-Term Lowe oculocerebrorenal syndrome TGT-TAT Cys-Tyr Lowe oculocerebrorenal syndrome CGA-CAA Arg-Gln Lowe oculocerebrorenal syndrome cCGA-GGA Arg-Gly Lowe oculocerebrorenal syndrome cCGA-TGA Arg-Term Lowe oculocerebrorenal syndrome GTT-GAT Val-Asp Lowe oculocerebrorenal syndrome TAT-TGT Tyr-Cys Lowe oculocerebrorenal syndrome AGCg-AGG Ser-Arg Lowe oculocerebrorenal syndrome CAC-CGC His-Arg Lowe oculocerebrorenal syndrome CACa-CAG His-Gln Lowe oculocerebrorenal syndrome CCT-CTT Pro-Leu Lowe oculocerebrorenal syndrome ATT-AGT Ile-Ser Lowe oculocerebrorenal syndrome tGAA-TAA Glu-Term Lowe oculocerebrorenal syndrome TACt-TAG Tyr-Term Lowe oculocerebrorenal syndrome tCGA-TGA Arg-Term Lowe oculocerebrorenal syndrome cCGA-TGA Arg-Term Lowe oculocerebrorenal syndrome

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