Identification of a Frameshift Mutation in Osterix in a Patient with Recessive Osteogenesis Imperfecta

Osteogenesis imperfecta, or “brittle bone disease,” is a type I collagen-related condition associated with osteoporosis and increased risk of bone fractures. Using a combination of homozygosity mapping and candidate gene approach, we have identified a homozygous single base pair deletion (c.1052delA...

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Huvudupphovsmän: Lapunzina, Pablo, Aglan, Mona, Temtamy, Samia, Caparrós-Martín, José A., Valencia, Maria, Letón, Rocío, Martínez-Glez, Victor, Elhossini, Rasha, Amr, Khalda, Vilaboa, Nuria, Ruiz-Perez, Victor L.
Materialtyp: Artigo
Språk:Inglês
Publicerad: Elsevier 2010
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Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC2896769/
https://ncbi.nlm.nih.gov/pubmed/20579626
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2010.05.016
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