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Studies of type I collagen in osteogenesis imperfecta

โœ Scribed by Matthew J. Edwards; John M. Graham Jr.


Book ID
117163523
Publisher
Elsevier Science
Year
1990
Tongue
English
Weight
990 KB
Volume
117
Category
Article
ISSN
1097-6833

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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