Identification of a Heterozygous Mutation in the TGFBI Gene in a Hui-Chinese Family with Corneal Dystrophy.

Qin Xiang Lamei Yuan Yanna Cao Hongbo Xu Yunfeiyang Li Hao Deng

Published in: Journal of ophthalmology (2019)

The results suggested that the heterozygous TGFBI c.1663C > T (p.Arg555Trp) mutation was responsible for GCD1 in the Hui-Chinese family, which should be of great help in genetic counseling for this family.

Keyphrases

early onset
genome wide
copy number
gene expression
dna methylation
hiv infected
human immunodeficiency virus
antiretroviral therapy
cataract surgery