Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta

Osteogenesis imperfecta (OI) is a heterogeneous genetic disorder characterized by bone fragility and susceptibility to fractures after minimal trauma. After mutations in all known OI genes had been excluded by Sanger sequencing, we applied next-generation sequencing to analyze the exome of a single...

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Detalhes bibliográficos
Main Authors: Becker, Jutta, Semler, Oliver, Gilissen, Christian, Li, Yun, Bolz, Hanno Jörn, Giunta, Cecilia, Bergmann, Carsten, Rohrbach, Marianne, Koerber, Friederike, Zimmermann, Katharina, de Vries, Petra, Wirth, Brunhilde, Schoenau, Eckhard, Wollnik, Bernd, Veltman, Joris A., Hoischen, Alexander, Netzer, Christian
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2011
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Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3059418/
https://ncbi.nlm.nih.gov/pubmed/21353196
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2011.01.015
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