Article
Identification and study of a FBN1 gene mutation in a Chinese family with ectopia lentis.
Molecular vision - 1 Jan 2012
Li Hongyi, Qu Wei, Meng Bo, Zhang Shuihua, Yang Tao, Huang Shangzhi, Yuan Huiping
Abstract excerpt
PURPOSE: To identify the mutation in the fibrillin-1 gene (FBN1) in a Chinese family with ectopia lentis (EL) and to predict the structural and functional consequences of the mutation. METHODS: Patients and family members were given complete physical, ophthalmic, and cardiovascular examinations. Genomic DNA was extracted from leukocytes of venous blood of three affected and three unaffected individuals in the...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.