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
β¦ LIBER β¦
Null mutations inLEPRE1andCRTAPcause severe recessive osteogenesis imperfecta
β Scribed by Joan C. Marini; Wayne A. Cabral; Aileen M. Barnes
- Book ID
- 106139720
- Publisher
- Springer-Verlag
- Year
- 2009
- Tongue
- English
- Weight
- 206 KB
- Volume
- 339
- Category
- Article
- ISSN
- 0302-766X
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