Učitavanje...
Identification of a novel heterozygous mutation in exon 50 of the COL1A1 gene causing osteogenesis imperfecta
A 19-year-old woman was diagnosed with osteogenesis imperfecta (OI). She had sustained numerous low-trauma fractures throughout her childhood, including a recent pelvic fracture (superior and inferior ramus) following a low-impact fall. She had the classical blue sclerae, and dual energy X-ray absor...
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| Glavni autori: | , , , , , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Bioscientifica Ltd
2013
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3922149/ https://ncbi.nlm.nih.gov/pubmed/24616757 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1530/EDM-13-0002 |
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