Rare variants in optic disc area gene CARD10 enriched in primary open-angle glaucoma
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- 作者：Tiger Zhou ; Emmanuelle Souzeau ; Shiwani Sharma ; Owen M. Siggs ; Ivan Goldberg ; Paul R. Healey ; Stuart Graham ; Alex W. Hewitt ; David A. Mackey ; Robert J. Casson ; John Landers ; Richard Mills ; Jonathan Ellis ; Paul Leo ; Matthew A. Brown ; Stuart MacGregor ; Kathryn P. Burdon and Jamie E. Craig
- 刊名：Molecular Genetics & Genomic Medicine
- 出版年：2016
- 出版时间：November 2016
- 年：2016
- 卷：4
- 期：6
- 页码：624-633
- 全文大小：1093K
- ISSN：2324-9269
文摘
Genome-wide association studies (GWAS) have identified association of common alleles with primary open-angle glaucoma (POAG) and its quantitative endophenotypes near numerous genes. This study aims to determine whether rare pathogenic variants in these disease-associated genes contribute to POAG.