Title: A novel P20R mutation in the alpha-B crystallin gene causes autosomal dominant congenital posterior polar cataracts in a Chinese family
نویسندگان
چکیده
Authors: 5 Xin-Yi Xia, Email: [email protected] 6 Qiu-Yue Wu, Email: [email protected] 7 Li-Mei An, Email: [email protected] 8 Wei-Wei Li, Email: [email protected] 9 Na Li, Email: [email protected] 10 Tian-Fu Li, Email: [email protected] 11 Cui Zhang, Email: [email protected] 12 Ying-Xia Cui, Email: [email protected] 13 Xiao-Jun Li, Email: [email protected] 14 Chun-Yan Xue, Email: [email protected] 15
منابع مشابه
A novel P20R mutation in the alpha-B crystallin gene causes autosomal dominant congenital posterior polar cataracts in a Chinese family
BACKGROUND To identify the genetic defects and investigate the possible mechanism of cataract genesis in a five-generation family with autosomal dominant congenital posterior polar cataracts. METHODS Clinical data were collected, and the lens phenotypes of the affected members in this family were recorded by slit lamp photography. Genomic DNA was isolated from peripheral blood using QIAamp DN...
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