Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease-Reference-Cited by-同舟云学术

Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease

Published:2013-08-04 Issue:25 Volume:22 Page:5136-5145
ISSN:1460-2083
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Braun Terry A.,Mullins Robert F.,Wagner Alex H.,Andorf Jeaneen L.,Johnston Rebecca M.,Bakall Benjamin B.,Deluca Adam P.,Fishman Gerald A.,Lam Byron L.,Weleber Richard G.,Cideciyan Artur V.,Jacobson Samuel G.,Sheffield Val C.,Tucker Budd A.,Stone Edwin M.

Publisher

Oxford University Press (OUP)

Subject

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

Link

http://academic.oup.com/hmg/article-pdf/22/25/5136/14140314/ddt367.pdf

Reference21 articles.

1. Deducing the pathogenic contribution of recessive ABCA4 alleles in an outbred population;Schindler;Hum. Mol. Genet.,2010

2. Genomics and the eye;Sheffield;N. Engl. J. Med.,2011

3. Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout mice;Weng;Cell,1999

4. ABCA4 Is an N-retinylidene-phosphatidylethanolamine and phosphatidylethanolamine importer;Quazi;Nat. Commun.,2012

5. Correction of the disease phenotype in the mouse model of Stargardt disease by lentiviral gene therapy;Kong;Gene. Ther.,2008

Cited by 152 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Nanopore Deep Sequencing as a Tool to Characterize and Quantify Aberrant Splicing Caused by Variants in Inherited Retinal Dystrophy Genes;International Journal of Molecular Sciences;2024-09-03

2. Genotypic spectrum of ABCA4-associated retinal degenerations in 211 unrelated Mexican patients: identification of 22 novel disease-causing variants;Molecular Genetics and Genomics;2024-08-20

3. A Retrospective Longitudinal Study of 460 Patients with ABCA4-Associated Retinal Disease;Ophthalmology;2024-08

4. Novel Variants in ABCA4-Related Retinopathies with Structural Re-Assessment of Variants of Uncertain Significance;Ophthalmologica;2024-07-23

5. Whole genome sequencing identifies elusive variants in genetically unsolved Italian inherited retinal disease patients;Human Genetics and Genomics Advances;2024-07