CRTAP AND LEPRE1 MUTATIONS IN RECESSIVE OSTEOGENESIS IMPERFECTA

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 α1(I) and type II...

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Main Authors: Baldridge, Dustin, Schwarze, Ulrike, Morello, Roy, Lennington, Jennifer, Bertin, Terry K., Pace, James M., Pepin, Melanie G., Weis, MaryAnn, Eyre, David R., Walsh, Jennifer, Lambert, Deborah, Green, Andrew, Robinson, Haynes, Michelson, Melonie, Houge, Gunnar, Lindman, Carl, Martin, Judith, Ward, Jewell, Lemyre, Emmanuelle, Mitchell, John J., Krakow, Deborah, Rimoin, David L., Cohn, Daniel H., Byers, Peter H., Lee, Brendan
Format: Artigo
Language:Inglês
Published: 2008
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Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC2671575/
https://ncbi.nlm.nih.gov/pubmed/18566967
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.20799
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