About: A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1

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About: A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1 Goto Sponge NotDistinct Permalink

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rdf:type	Item
description	article (en) ലേഖനം (ml) wetenschappelijk artikel (nl) наукова стаття, опублікована в листопаді 1993 (uk) article scientifique publié en 1993 (fr) im November 1993 veröffentlichter wissenschaftlicher Artikel (de)
publication date	wds:Q55670938-EE2C3947-5FA8-4B70-A2AA-D6BCA783785E
publication date	1993-11-01 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q55670938-901D6D3B-97AA-4C7D-ABEF-202CDC4FC3E1
language of work or name	English
exact match	wds:Q55670938-713D41D8-2121-4769-B242-95D443C64CF0
exact match	https://scigraph.springernature.com/pub.10.1038/ng1193-308
cites work	wds:Q55670938-09FE9D4E-E247-458B-B55C-0D682DAEB52E wds:Q55670938-30BC0133-A83D-44D8-BB3D-A149915855D4 wds:Q55670938-565EB8F0-0054-49A3-8E00-85FE3AFC45C5 wds:Q55670938-6602917A-CA68-461F-943F-684DC391EC15 wds:Q55670938-737EA3E3-0428-45CA-8A95-D5B5C80CCDEC wds:Q55670938-753AF057-7292-4642-AAFB-0EDAA0AA840E wds:Q55670938-77189183-8D1B-4A4D-971F-1D677ECA1E76 wds:Q55670938-8255CFCE-2B68-425F-AC54-943E6515608B wds:Q55670938-85FA5A20-592E-4D08-BB2F-76DD9FA407E7 wds:Q55670938-8BC7E485-EF02-4ADF-8E24-43F1C311DAD0 wds:Q55670938-9205B09D-F5BF-4532-85B5-FC3ADB09D403 wds:Q55670938-983D1A6C-7456-4966-B694-21D326ACB0CC wds:Q55670938-BE299B87-3F98-4DCA-B8DB-7EE00715A8D5 wds:Q55670938-C78AACA6-A188-483D-B689-C017C3B23116 wds:Q55670938-ECBACE1D-BA3F-4025-8959-8C2A1B65CC23 wds:Q55670938-FA7B873F-1CCD-4AA6-B2CA-86ED323158AF
cites work	A second-generation linkage map of the human genome Evolution of the mammalian G protein alpha subunit multigene family Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13 The dark choroid in posterior retinal dystrophies Über familiäre, progressive Degeneration in der Maculagegend des Auges Fundus Flavimaculatus and Stargardt's Disease Fundus flavimaculatus. A clinical classification Retinal pigment epithelial abnormalities in fundus flavimaculatus: a light and electron microscopic study Clinical and genetic heterogeneity in retinitis pigmentosa Progressive cone-rod degeneration Progressive cone dystrophy Infantile form of neuronal ceroid lipofuscinosis (CLN1) maps to the short arm of chromosome 1 On the molecular genetics of retinitis pigmentosa Batten disease (Spielmeyer-Vogt disease, juvenile onset neuronal ceroid-lipofuscinosis) gene (CLN3) maps to human chromosome 16. The central and peripheral retina in macular degenerations. Involvement as reflected by the electroretinogram
author name string	wds:Q55670938-16A57C7F-546E-4362-A03E-B7EDCC1DE9D6 wds:Q55670938-1ADA9915-3657-456F-B8E7-57D59579EA07 wds:Q55670938-297520F8-064C-44B7-A4DB-02CE89CD19A6 wds:Q55670938-392208EE-7D4A-4FAF-BFBA-9C6C8F185173 wds:Q55670938-43A6A8D2-7EFC-4B7C-AA1A-123FEF3A2CA0 wds:Q55670938-6A335211-DDB1-49AB-A3DF-99B51BE52825 wds:Q55670938-8CE1807B-04EC-44EF-9C9C-4DA5E5B7DEF2 wds:Q55670938-B6B5AE9F-D6AE-4F4D-8FC1-B9D4C88225A9
author name string	Odent S Kaplan J Larget-Piet D Dufier JL Janin N Briard ML Dollfus H Postel-Vinay A
rdfs:label	A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1 (en) A gene for Stargardt's disease (nl)
skos:prefLabel	A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1 (en) A gene for Stargardt's disease (nl)
name	A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1 (en) A gene for Stargardt's disease (nl)
author	wds:Q55670938-7B28378D-77EA-4E3F-AE1F-B892BE00D728 wds:Q55670938-FD5C5A4B-EC84-4621-9E32-346B1C3F407D
author	Jean-michel Rozet Sylvie Gerber
title	wds:Q55670938-E8AA2EF5-34CD-459E-9EA9-68D03B832A20
title	A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1 (en)
page(s)	wds:Q55670938-30AE67CF-B354-42FB-8C06-8E3959832FAD
page(s)	308-311
instance of	wds:Q55670938-643434B9-1671-444A-B2AE-828364D40CE6
instance of	scholarly article
PubMed ID	wds:Q55670938-8A318910-1421-40FB-BC0A-6D63F97E2C1B
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/8275096
PubMed ID	8275096
published in	wds:Q55670938-9A349693-6718-4139-98E8-7FF4155ED727
published in	Nature Genetics
issue	wds:Q55670938-0ABF82D8-0927-4889-8A7C-11ED6D1F4610
volume	wds:Q55670938-287EB36E-5098-440B-8863-2A4F87B18030
issue	3
volume	5
DOI	wds:Q55670938-78192515-9BAA-4EC8-88BA-BA0DF47F5BC9
DOI	http://dx.doi.org/10.1038/NG1193-308
DOI	10.1038/NG1193-308
ResearchGate publication ID	wds:Q55670938-C8871CA7-A323-4AFC-8F85-412761154832
ResearchGate publication ID	14924389
Dimensions Publication ID	wds:Q55670938-CDC3A2FC-E316-46EE-8841-512DC321E9C2
Dimensions Publication ID	1029384233
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q55670938
is cites work of	Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease An inventory of the human ABC proteins Simple and complex ABCR: genetic predisposition to retinal disease Identification of genes causing photoreceptor degenerations leading to blindness The rod photoreceptor ATP-binding cassette transporter gene, ABCR, and retinal disease: from monogenic to multifactorial. Retinal photoreceptor dystrophies LI. Edward Jackson Memorial Lecture

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