Phenotype-Based Genetic Analysis Reveals Missing Heritability of <i>ABCA4</i>-Related Retinopathy: Deep Intronic Variants and Copy Number Variations-Reference-Cited by-同舟云学术

Phenotype-Based Genetic Analysis Reveals Missing Heritability of ABCA4-Related Retinopathy: Deep Intronic Variants and Copy Number Variations

Published:2022-06-03 Issue:6 Volume:63 Page:5
ISSN:1552-5783
Container-title:Investigative Opthalmology & Visual Science
language:en
Short-container-title:Invest. Ophthalmol. Vis. Sci.

Author:

Tian Lu¹,Chen Chunjie¹,Song Yuning¹,Zhang Xiaohui¹,Xu Ke¹,Xie Yue¹,Jin Zi-Bing¹,Li Yang¹

Affiliation:

1. Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology & Visual Sciences Key Lab, Beijing, China

Publisher

Association for Research in Vision and Ophthalmology (ARVO)

Subject

General Medicine

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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. Generalized choriocapillaris dystrophy, a distinct phenotype in the spectrum of ABCA4-associated retinopathies;Bertelsen;Invest Ophthalmol Vis Sci,2014

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