Article
Molecular findings in Brazilian patients with osteogenesis imperfecta.
Journal of applied genetics - 1 Jan 2005
Reis Fernanda C, Alexandrino Fabiana, Steiner Carlos E, Norato Denise Y J, Cavalcanti Denise P, Sartorato Edi L
Abstract excerpt
Osteogenesis imperfecta (OI) is a genetic disorder of increased bone fragility and low bone mass. Severity varies widely, ranging from intrauterine fractures and perinatal lethality to very mild forms without fractures. Most patients with a clinical diagnosis of OI have a mutation in the COL1A1 or COL1A2 genes that encode the a chains of type I procollagen, the major protein in bones. Hence, the aim of the...
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