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EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta

Osteogenesis imperfecta (OI) comprises a group of inherited disorders characterized by bone fragility and increased susceptibility to fractures. Historically, the laboratory confirmation of the diagnosis OI rested on cultured dermal fibroblasts to identify decreased or abnormal production of abnorma...

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Detalles Bibliográficos
Autores principales:	van Dijk, Fleur S, Byers, Peter H, Dalgleish, Raymond, Malfait, Fransiska, Maugeri, Alessandra, Rohrbach, Marianne, Symoens, Sofie, Sistermans, Erik A, Pals, Gerard
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group 2012
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3234509/ https://www.ncbi.nlm.nih.gov/pubmed/21829228 http://dx.doi.org/10.1038/ejhg.2011.141

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