About: Heterozygous Deep-Intronic Variants and Deletions inABCA4in Persons with Retinal Dystrophies and One ExonicABCA4Variant

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About: Heterozygous Deep-Intronic Variants and Deletions inABCA4in Persons with Retinal Dystrophies and One ExonicABCA4Variant Goto Sponge NotDistinct Permalink

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rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована в грудні 2014 (uk) im Dezember 2014 veröffentlichter wissenschaftlicher Artikel (de)
publication date	wds:Q57784329-2D9C1030-17E5-425C-AA46-309EF0172C30
publication date	2014-12-30 00:00:00Z (xsd:dateTime)
cites work	wds:Q57784329-07708F76-5521-41EF-92A0-EBFD9F841641 wds:Q57784329-0FA2C041-F217-4B65-84BB-53ACC5113A92 wds:Q57784329-257FE90D-E3A2-43B7-81FF-C6D057649228 wds:Q57784329-46492514-821C-4D4E-8205-2257D8C8EE3A wds:Q57784329-55CF91F5-40E5-4DFC-B88B-674B2544F0AB wds:Q57784329-67D815E4-E3FE-41BB-B5D8-B411EA95322A wds:Q57784329-8F01388C-EC8E-436E-AF5C-A230A6841922 wds:Q57784329-9706F9BE-CE44-429B-A370-8020BB7F67BA wds:Q57784329-A0D9C462-B3E7-4B10-8B4A-611EC50DE624 wds:Q57784329-A47397AB-F522-4B28-B51C-7636FF485EF8 wds:Q57784329-ABE83B9D-D811-4A14-B2DC-89D38802F010 wds:Q57784329-B8A3F4AD-8F11-4A5D-A546-6031052E95AC wds:Q57784329-C0C4FCA1-3EEC-4376-972E-515FD95128CD wds:Q57784329-CBD7DA8E-17D7-41DB-82AA-19EF49D44A08 wds:Q57784329-ECEF04F1-694A-48E1-9476-1C37615D188A
cites work	Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene. An ABCA4 genomic deletion in patients with Stargardt disease Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy ISCEV Standard for full-field clinical electroretinography (2008 update). The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease Genotyping microarray (gene chip) for the ABCR (ABCA4) gene. Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease. Analysis of the ABCA4 genomic locus in Stargardt disease Three families displaying the combination of Stargardt's disease with cone-rod dystrophy or retinitis pigmentosa ABCA4 and ROM1: implications for modification of the PRPH2-associated macular dystrophy phenotype The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe Unexpected CEP290 mRNA splicing in a humanized knock-in mouse model for Leber congenital amaurosis. Antisense Oligonucleotide (AON)-based Therapy for Leber Congenital Amaurosis Caused by a Frequent Mutation in CEP290.
author name string	wds:Q57784329-082559E0-BBA2-4265-BA9F-9FBF0181ACB0 wds:Q57784329-0C4B21E5-77BC-40CD-9DE7-02ACB9FB80DE wds:Q57784329-2AABA317-8372-4DBF-81D1-023E7E145911 wds:Q57784329-47158BBE-462E-465B-A5D3-3508D0B680B6 wds:Q57784329-71F886FD-A6BA-463B-984F-6D8FBF310375 wds:Q57784329-742D0F46-FD2C-4250-83A3-266630282577 wds:Q57784329-7540088C-7F0A-492E-9344-2887AF48475A wds:Q57784329-79B3C252-225E-4626-8E2C-DFF0542B60B8 wds:Q57784329-89FD9552-3E8D-42B4-93CB-F80940C0E7E9 wds:Q57784329-8FCE68C3-6784-4F39-9455-098F730B537E wds:Q57784329-971352EA-1D33-4CBA-B6B1-0039043BCFA3 wds:Q57784329-9CE94554-2FB9-458E-8B7E-5222964FF8CF wds:Q57784329-A745D07E-224E-44B8-9860-B2191EF521D9 wds:Q57784329-EA875044-5DF2-4839-BBE0-54F0DD842905
author name string	Anneke I. den Hollander Carel B. Hoyng Merve Mutlu B. Jeroen Klevering Frans P.M. Cremers Terry A. Braun Lies H. Hoefsloot L. Ingeborgh van den Born Milan Phan Ilse de Wijs Alberta A.H.J. Thiadens Carla Westeneng-van Haaften Marijke N. Zonneveld-Vrieling Nathalie M. Bax
rdfs:label	Heterozygous Deep-Intronic Variants and Deletions inABCA4in Persons with Retinal Dystrophies and One ExonicABCA4Variant (en) Heterozygous Deep-Intronic Variants and Deletions inABCA4in Persons with Retinal Dystrophies and One ExonicABCA4Variant (nl)
skos:prefLabel	Heterozygous Deep-Intronic Variants and Deletions inABCA4in Persons with Retinal Dystrophies and One ExonicABCA4Variant (en) Heterozygous Deep-Intronic Variants and Deletions inABCA4in Persons with Retinal Dystrophies and One ExonicABCA4Variant (nl)
name	Heterozygous Deep-Intronic Variants and Deletions inABCA4in Persons with Retinal Dystrophies and One ExonicABCA4Variant (en) Heterozygous Deep-Intronic Variants and Deletions inABCA4in Persons with Retinal Dystrophies and One ExonicABCA4Variant (nl)
author	wds:Q57784329-3640A579-27BF-4FFC-A64F-997F47D39914 wds:Q57784329-906C7DA6-337A-4BCE-88D2-361A11E02370 wds:Q57784329-A9233AA2-F555-4469-B429-664A5376DB57 wds:Q57784329-E41B0E09-3C3E-4FA2-A24D-41637E3EB3B8
author	Edwin M. Stone Susanne Roosing Caroline C Klaver Riccardo Sangermano
title	wds:Q57784329-B157F7C3-092D-4E2A-B716-0832F19AC6E0
title	Heterozygous Deep-Intronic Variants and Deletions inABCA4in Persons with Retinal Dystrophies and One ExonicABCA4Variant (en)
page(s)	wds:Q57784329-3F3AEDB7-F3A1-40EE-92EB-02C31791CF11
page(s)	43-47
instance of	wds:Q57784329-E3469836-42CF-49C5-94F9-22C407C76752
instance of	scholarly article
main subject	wds:Q57784329-0616C559-A2E5-40B9-B906-EAF58BE97CD3
main subject	heterozygosity
PubMed ID	wds:Q57784329-EE38A814-7DA6-424A-8262-CC88A5B2C1A7
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/25363634
PubMed ID	25363634
published in	wds:Q57784329-C033D74B-D61A-4128-B9C7-A25A30183F24
published in	Human Mutation
issue	wds:Q57784329-1B9F9DED-5367-406A-B5A1-33C31A59108C
volume	wds:Q57784329-798615B1-9C48-4677-8EE4-F730A9FF19FE
issue	1
volume	36
DOI	wds:Q57784329-CFD53D95-8712-41F1-AC99-582D920286E5
DOI	http://dx.doi.org/10.1002/HUMU.22717
DOI	10.1002/HUMU.22717
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q57784329
is cites work of	Autosomal recessive retinitis pigmentosa with homozygous rhodopsin mutation E150K and non-coding cis-regulatory variants in CRX-binding regions of SAMD7

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