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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Bibliografiska uppgifter
Huvudupphovsmän: 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
Materialtyp: Artigo
Språk:Inglês
Publicerad: Wiley Subscription Services, Inc., A Wiley Company 2011
Ämnen:
Clinical Vignette
Länkar: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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