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Hutterite-Type Cataract Maps to Chromosome 6P21.32-P21.31, Cosegregates with A Homozygous Mutation in Lemd2, and is Associated with Sudden Cardiac Death

Philip M. Boone,Bo Yuan,Shen Gu,Zhiwei Ma,Tomasz Gambin,Claudia Gonzaga-Jauregui,Mahim Jain, Todd J. Murdock,Janson J. White,Shalini N. Jhangiani,Kimberly Walker,Qiaoyan Wang,Donna M. Muzny,Richard A. Gibbs,J. Fielding Hejtmancik,James R. Lupski,Jennifer E. Posey,Richard A. Lewis

Molecular Genetics & Genomic Medicine（2015）

引用 27|浏览65
关键词
Cataract,Hutterite,LEM domain,LEMD2,MUC21,recessive,sudden death
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