Variable Bone Fragility Associated With an Amish COL1A2 Variant and a Knock-in Mouse Model

Osteogenesis imperfecta (OI) is a heritable form of bone fragility typically associated with a dominant COL1A1 or COL1A2 mutation. Variable phenotype for OI patients with identical collagen mutations is well established, but phenotype variability is described using the qualitative Sillence classific...

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Detalles Bibliográficos
Autores principales: Daley, Ethan, Streeten, Elizabeth A, Sorkin, John D, Kuznetsova, Natalia, Shapses, Sue A, Carleton, Stephanie M, Shuldiner, Alan R, Marini, Joan C, Phillips, Charlotte L, Goldstein, Steven A, Leikin, Sergey, McBride, Daniel J
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wiley Subscription Services, Inc., A Wiley Company 2010
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3153383/
https://www.ncbi.nlm.nih.gov/pubmed/19594296
http://dx.doi.org/10.1359/jbmr.090720

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