Article
Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta.
American journal of medical genetics. Part A - 1 Jun 2014
Stephen Joshi, Shukla Anju, Dalal Ashwin, Girisha Katta Mohan, Shah Hitesh, Gupta Neerja, Kabra Madhulika, Dabadghao Preeti, Hasegawa Kosei, Tanaka Hiroyuki, Phadke Shubha R
Abstract excerpt
Osteogenesis imperfecta (OI) is a condition of decreased bone density with heterogeneous etiologies. Most of the cases are inherited in an autosomal dominant fashion and are caused by mutations in the COL1A1 or COL1A2 genes. Since these two genes are very large, there are no data about mutations in Indian patients with OI. We selected 35 Indian patients who were clinically diagnosed with OI and all exons of both...
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