Mutations in SERPINF1 Cause Osteogenesis Imperfecta Type VI

Osteogenesis imperfecta (OI) is a spectrum of genetic disorders characterized by bone fragility. It is caused by dominant mutations affecting the synthesis and/or structure of type I procollagen or by recessively inherited mutations in genes responsible for the posttranslational processing/trafficki...

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Detalles Bibliográficos
Autores principales: Homan, Erica P, Rauch, Frank, Grafe, Ingo, Lietman, Caressa, Doll, Jennifer A, Dawson, Brian, Bertin, Terry, Napierala, Dobrawa, Morello, Roy, Gibbs, Richard, White, Lisa, Miki, Rika, Cohn, Daniel H, Crawford, Susan, Travers, Rose, Glorieux, Francis H, Lee, Brendan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wiley Subscription Services, Inc., A Wiley Company 2011
Materias:
Clinical Vignette
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3214246/
https://www.ncbi.nlm.nih.gov/pubmed/21826736
http://dx.doi.org/10.1002/jbmr.487

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