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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Bibliografske podrobnosti
Main Authors: van Dijk, Fleur S, Byers, Peter H, Dalgleish, Raymond, Malfait, Fransiska, Maugeri, Alessandra, Rohrbach, Marianne, Symoens, Sofie, Sistermans, Erik A, Pals, Gerard
Format: Artigo
Jezik:Inglês
Izdano: Nature Publishing Group 2012
Teme:
Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC3234509/
https://ncbi.nlm.nih.gov/pubmed/21829228
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2011.141
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