Recessive osteogenesis imperfecta: Clinical, radiological, and molecular findings
โ Scribed by Marianne Rohrbach; Cecilia Giunta
- Book ID
- 111995388
- Publisher
- John Wiley and Sons
- Year
- 2012
- Tongue
- English
- Weight
- 333 KB
- Volume
- 160C
- Category
- Article
- ISSN
- 1552-4868
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๐ SIMILAR VOLUMES
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
Osteogenesis imperfecta (OI) is a genetic disorder of connective tissue characterized by bone fragility and alteration in synthesis and posttranslational modification of type I collagen. Autosomal dominant OI is caused by mutations in the genes (__COL1A1__ or __COL1A2__) encoding the chains of type