Article
De novo mutations of TUBA3D are associated with keratoconus.
Scientific reports - 19 Oct 2017
Hao Xiao-Dan, Chen Peng, Zhang Yang-Yang, Li Su-Xia, Shi Wei-Yun, Gao Hua
Abstract excerpt
Keratoconus (KC) is a common degenerative corneal disease, and heredity plays a key role in its development. Although few genes are known to cause KC, a large proportion of disease-causing genes remain to be revealed. Here, we report the identification of TUBA3D as a novel gene linked to KC. Using whole-exome sequencing of a twins pedigree, a novel de novo mutation (c.31 C > T, p.Gln11stop) in TUBA3D gene was...
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