Analysis of the ABCA4 genomic locus in Stargardt disease-Reference-Cited by-同舟云学术

Analysis of the ABCA4 genomic locus in Stargardt disease

Published:2014-07-31 Issue:25 Volume:23 Page:6797-6806
ISSN:1460-2083
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Zernant Jana,Xie Yajing (Angela),Ayuso Carmen,Riveiro-Alvarez Rosa,Lopez-Martinez Miguel-Angel,Simonelli Francesca,Testa Francesco,Gorin Michael B.,Strom Samuel P.,Bertelsen Mette,Rosenberg Thomas,Boone Philip M.,Yuan Bo,Ayyagari Radha,Nagy Peter L.,Tsang Stephen H.,Gouras Peter,Collison Frederick T.,Lupski James R.,Fishman Gerald A.,Allikmets Rando

Publisher

Oxford University Press (OUP)

Subject

Genetics(clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/23/25/6797/17260664/ddu396.pdf

Reference27 articles.

1. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy;Allikmets;Nat. Genet.,1997

2. Autosomal recessive retinitis pigmentosa and cone–rod dystrophy caused by splice site mutations in the Stargardt’s disease gene ABCR;Cremers;Hum. Mol. Genet.,1998

3. Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone–rod dystrophy;Maugeri;Am. J. Hum. Genet.,2000

4. Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR;Martinez-Mir;Nat. Genet.,1998

5. Null missense ABCR (ABCA4) mutations in a family with Stargardt disease and retinitis pigmentosa;Shroyer;Invest. Ophthalmol. Vis. Sci.,2001

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