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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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| Auteurs principaux: | , , , , , , , , |
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| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Nature Publishing Group
2012
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| Sujets: | |
| Accès en ligne: | 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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