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Mutations in type I collagen genes in Japanese osteogenesis imperfecta patients

โœ Scribed by KYOKO KATAOKA; ERIKO OGURA; KOSEI HASEGAWA; MASARU INOUE; YOSHIKI SEINO; TSUNEO MORISHIMA; HIROYUKI TANAKA


Book ID
108971338
Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
109 KB
Volume
49
Category
Article
ISSN
1328-8067

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Mutational spectrum of type I collagen g
โœ Kwang-Soo Lee; Hae-Ryong Song; Tae-Joon Cho; Hyon J. Kim; Tae-Mi Lee; Hyun-Seok ๐Ÿ“‚ Article ๐Ÿ“… 2006 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 170 KB

## 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