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Mutational spectrum of type I collagen genes in Korean patients with osteogenesis imperfecta.

Human mutation - 1 Jun 2006

Lee Kwang-Soo, Song Hae-Ryong, Cho Tae-Joon, Kim Hyon J, Lee Tae-Mi, Jin Hyun-Seok, Park Hyun-Young, Kang Seongman, Jung Sung-Chul, Koo Soo Kyung

Abstract excerpt

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 characterized by normal stature and the absence of deformities. Although there have been several studies on the mutational spectra of COL1A1 and/or COL1A2 in...

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PMID: 16705691
DOI: 10.1002/humu.9423

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