Article
Mutations in COL1A1 of type I collagen genes in Chinese patients with osteogenesis imperfecta.
Journal of investigative medicine : the official publication of the American Federation for Clinical Research - 1 Jun 2009
Wang Zhuo, Yang Zheng, Ke Zunfu, Yang Shicong, Shi Huijuan, Wang Liantang
Abstract excerpt
BACKGROUND: Osteogenesis imperfecta (OI) is an inherited bone disease caused by mutations in collagen genes. Because these mutations occur at a wide variety of sites in the genes and differ among populations, we studied the COL1A1 gene in Chinese with OI and compared the results with findings form other populations. METHODS: COL1A1 gene mutations were detected by polymerase chain reaction and sequencing from 3...
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