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Prolyl 3_hydroxylation and recessive osteogenesis imperfecta

✍ Scribed by R. Morello; T. Bertin; J. Hicks; P. Castagnola; F.H. Glorieux; H. Bachinger; P.H. Byers; D.R. Eyre; B.F. Boyce; Lee


Book ID
116729511
Publisher
Elsevier Science
Year
2006
Tongue
English
Weight
56 KB
Volume
25
Category
Article
ISSN
0945-053X

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Autosomal dominant osteogenesis imperfecta (OI) is caused by mutations in the genes (COL1A1 or COL1A2) encoding the chains of type I collagen. Recently, dysregulation of hydroxylation of a single proline residue at position 986 of both the triple-helical domains of type I collagen a1(I) and type II