Mutational spectrum of type I collagen g
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Kwang-Soo Lee; Hae-Ryong Song; Tae-Joon Cho; Hyon J. Kim; Tae-Mi Lee; Hyun-Seok
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Article
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2006
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John Wiley and Sons
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English
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## Communicated by Richard G.H. Cotton Mutations in the type I collagen genes COL1A1 and COL1A2 are responsible for the dominantly inherited connective tissue disorder osteogenesis imperfecta (OI). The severity of OI is diverse, ranging from perinatal lethality to a very mild phenotype that is cha