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Article

<i>CRTAP</i>and<i>LEPRE1</i>mutations in recessive osteogenesis imperfecta

19 Jun 2008

Abstract excerpt

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 alpha1(I) and type II collagen alpha1(II) chains has been implicated in the pathogenesis of recessive forms of OI. Two proteins,...

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PMID: 18566967
DOI: 10.1002/humu.20799

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<i>CRTAP</i>and<i>LEPRE1</i>mutations in recessive osteogenesis imperfectaPMID 18566967Read ↗

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