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9. Type I collagen biosynthesis in patients with severe osteogenesis imperfecta

โœ Scribed by Francis, MJO; Pocock, AE; Smith, R; Wordsworth, BP; Thompson, EE

Book ID
122083686
Publisher
Elsevier Science
Year
1989
Tongue
English
Weight
137 KB
Volume
10
Category
Article
ISSN
8756-3282

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