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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Dettagli Bibliografici
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Wiley Subscription Services, Inc., A Wiley Company 2011
Soggetti:
Clinical Vignette
Accesso online: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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