Article
KIF21A mutations in two Chinese families with congenital fibrosis of the extraocular muscles (CFEOM).
Molecular vision - 13 Oct 2010
Yang Xian, Yamada Koki, Katz Bradley, Guan Hongzai, Wang Lifei, Andrews Caroline, Zhao Guiqiu, Engle Elizabeth C, Chen Haoyu, Tong Zongzhong, Kong Jie, Hu Cong, Kong Qinglan, Fan Guiyun, Wang Ze, Ning Meizhen, Zhang Shaoyan, Xu Jinling, Zhang Kang
Abstract excerpt
PURPOSE: Two Chinese families (XT and YT) with congenital fibrosis of the extraocular muscles (CFEOM) were identified. The purpose of this study was to determine if previously described Homo sapiens kinesin family member 21A (KIF21A) mutations were responsible for CFEOM in these two Chinese pedigrees. METHODS: Clinical characterization and genetic studies were performed. Microsatellite genotyping for linkage to...
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