黄斑变性
生物
视网膜色素上皮
遗传学
错义突变
原位杂交
表型
候选基因
眼科
基因
基因表达
医学
视网膜
作者
Radha Ayyagari,Md Nawajes A. Mandal,Athanasios J. Karoukis,Lianchun Chen,Ning C. McLaren,Mona Lichter,David T. Wong,Peter F. Hitchcock,Rafael C. Caruso,Sayoko E. Moroi,Irene H. Maumenee,Paul A. Sieving
摘要
A single locus at 11q23 is implicated in a complex ocular phenotype involving RPE and CE, tissues of neuroectodermal origin. All individuals with either LAZ and/or macular degeneration carry the same CTRP5 S163R mutation, which is transmitted in autosomal dominant manner.
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