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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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| Hlavní autoři: | , , , , , , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Nature Publishing Group
2012
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| Témata: | |
| On-line přístup: | 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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