About: Variation of Codons 1961 and 2177 of the Stargardt Disease Gene Is Not Associated With Age-Related Macular Degeneration

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rdf:type	Item
description	article (en) wetenschappelijk artikel (nl) наукова стаття, опублікована в травні 2001 (uk) im Mai 2001 veröffentlichter wissenschaftlicher Artikel (de)
publication date	wds:Q57784906-C06F5F57-A1B8-4197-8F78-EE0ABCE96B3D
publication date	2001-05-01 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q57784906-A4A1B4EA-3B06-4BE1-B001-DEA583B3B744
language of work or name	English
author name string	wds:Q57784906-191773DB-F094-4C4B-A939-9D28F711D96F wds:Q57784906-499258CE-F418-4FEA-A59C-5D7A367CC420 wds:Q57784906-66BD4D55-7555-423B-8251-6C717FB6667C wds:Q57784906-933B69D3-67D1-47E2-862C-6257B8BB866E wds:Q57784906-9B761169-B0FD-47E6-ADFD-230802A41933 wds:Q57784906-C39B466A-544C-4BB8-BA5F-63455E41B32F wds:Q57784906-D1821C05-7160-4698-8DCC-9115E041E704
author name string	D F Schorderet A J Lotery F L Munier H Haines E Héon R J McNeil P N Baird
rdfs:label	Variation of Codons 1961 and 2177 of the Stargardt Disease Gene Is Not Associated With Age-Related Macular Degeneration (en) Variation of Codons 1961 and 2177 of the Stargardt Disease Gene Is Not Associated With Age-Related Macular Degeneration (nl)
skos:prefLabel	Variation of Codons 1961 and 2177 of the Stargardt Disease Gene Is Not Associated With Age-Related Macular Degeneration (en) Variation of Codons 1961 and 2177 of the Stargardt Disease Gene Is Not Associated With Age-Related Macular Degeneration (nl)
name	Variation of Codons 1961 and 2177 of the Stargardt Disease Gene Is Not Associated With Age-Related Macular Degeneration (en) Variation of Codons 1961 and 2177 of the Stargardt Disease Gene Is Not Associated With Age-Related Macular Degeneration (nl)
author	wds:Q57784906-64FFB699-AC5B-4EEB-B9AD-7E5E7F9D1F7C wds:Q57784906-7E9A6D91-8C38-4D51-A576-4C8B63ACEE36 wds:Q57784906-BE9458B1-0F1B-409E-9BF8-11113BE1DCFA
author	Robyn H. Guymer Val C Sheffield Edwin M. Stone
title	wds:Q57784906-F6FEC71E-5CB3-45FF-9867-3934DCB73E5F
title	Variation of codons 1961 and 2177 of the Stargardt disease gene is not associated with age-related macular degeneration (en)
page(s)	wds:Q57784906-1EE994F9-6068-4A74-9325-AD373BCA8495
page(s)	745-751
instance of	wds:Q57784906-D4FF4829-9F52-41A4-A7BE-472313A4482C
instance of	scholarly article
main subject	wds:Q57784906-7C379302-DCEE-4DBC-AC52-8104D7A52B75 wds:Q57784906-A0A4CF0F-8FE7-4CC3-BF0F-9A7AD12AFC97
main subject	Stargardt disease macular degeneration
PubMed ID	wds:Q57784906-BF98F0FE-8D7A-498D-9A3A-D6869D17EF27
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/11346402
PubMed ID	11346402
published in	wds:Q57784906-BE09CA81-4E83-4568-8F2E-416AC48D3E65
published in	JAMA Ophthalmology
issue	wds:Q57784906-D818756A-8D57-4B49-A42D-94D1C873AE68
volume	wds:Q57784906-B83FAAF8-40B0-4D84-8208-996E98D22AB5
issue	5
volume	119
number of pages	wds:Q57784906-FA59F91C-9AB6-4669-A290-2F0EE8ED6613
number of pages	7 (xsd:decimal)
DOI	wds:Q57784906-53ED0FAF-CDBD-4D29-BE78-19AE0172C5C0
DOI	http://dx.doi.org/10.1001/ARCHOPHT.119.5.745
DOI	10.1001/ARCHOPHT.119.5.745
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q57784906
is cites work of	Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene. Age-Related Macular Degeneration: Etiology, Pathogenesis, and Therapeutic Strategies Evaluation of optineurin sequence variations in 1,048 patients with open-angle glaucoma Complement activation and choriocapillaris loss in early AMD: implications for pathophysiology and therapy. Meta-analysis of genome scans of age-related macular degeneration Convergence of linkage, gene expression and association data demonstrates the influence of the RAR-related orphan receptor alpha (RORA) gene on neovascular AMD: a systems biology based approach Age-related macular degeneration: a perspective on genetic studies Genetics of age-related macular degeneration: current concepts, future directions Ordered subset linkage analysis supports a susceptibility locus for age-related macular degeneration on chromosome 16p12 Dissection of genomewide-scan data in extended families reveals a major locus and oligogenic susceptibility for age-related macular degeneration Genetic factors of age-related macular degeneration Adenosine triphosphate-binding cassette transporter genes in ageing and age-related diseases. Progress in defining the molecular biology of age related macular degeneration Light and inherited retinal degeneration Retinal Histopathology in Eyes from a Patient with Stargardt disease caused by Compound Heterozygous ABCA4 Mutations. The molecular genetic basis of age-related macular degeneration: an overview G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull's eye maculopathy An update on the genetics of age-related macular degeneration. Review of genetics in age related macular degeneration. The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene Genotype-phenotype correlation in Italian families with Stargardt disease Genetic association study of age-related macular degeneration in the Spanish population. Risk factors and biomarkers of age-related macular degeneration Monoallelic ABCA4 Mutations Appear Insufficient to Cause Retinopathy: A Quantitative Autofluorescence Study In Silico Functional Meta-Analysis of 5,962 ABCA4 Variants in 3,928 Retinal Dystrophy Cases Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs. The impact of the human genome project on complex disease An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patients. A case-control collapsing analysis identifies retinal dystrophy genes associated with ophthalmic disease in patients with no pathogenic ABCA4 variants Molecular screening of the CYP4V2 gene in Bietti crystalline dystrophy that is associated with choroidal neovascularization Peripapillary sparing in RDH12-associated Leber congenital amaurosis. Retinal findings in a patient with mutations in ABCC6 and ABCA4 Protein Sequence Variants: Resources and Tools Leucine 7−proline 7 polymorphism in the signal peptide of neuropeptide Y is not a risk factor for exudative age-related macular degeneration Highly penetrant alleles in age-related macular degeneration Genetic characterization of Stargardt clinical phenotype in South Indian patients using sanger and targeted sequencing Carrier frequency analysis of mutations causing autosomal-recessive-inherited retinal diseases in the Israeli population
is cites work of	wds:Q35126780-7E91B0A4-5D48-4007-BBC5-70717E0B4979 wds:Q37415582-D490CD0F-8FDF-44A2-8D84-6371885904DF

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