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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Hlavní autoři: Aftab, S A S, Reddy, N, Owen, N L, Pollitt, R, Harte, A, McTernan, P G, Tripathi, G, Barber, T M
Médium: Artigo
Jazyk:Inglês
Vydáno: Bioscientifica Ltd 2013
Témata:
Insight into Disease Pathogenesis or Mechanism of Therapy
On-line přístup: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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