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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Detalhes bibliográficos
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Wiley Subscription Services, Inc., A Wiley Company 2011
Assuntos:
Clinical Vignette
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3214246/
https://ncbi.nlm.nih.gov/pubmed/21826736
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jbmr.487
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