A Founder Mutation in LEPRE1 Carried by 1.5% of West Africans and 0.4% of African Americans Causes Lethal Recessive Osteogenesis Imperfecta

PURPOSE: Deficiency of prolyl 3-hydroxylase 1, encoded by LEPRE1, causes recessive osteogenesis imperfecta. We previously identified a LEPRE1 mutation, exclusively in African Americans and contemporary West Africans. We hypothesized that this allele originated in West Africa and was introduced to th...

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Detalhes bibliográficos
Main Authors: Cabral, Wayne A., Barnes, Aileen M., Adeyemo, Adebowale, Cushing, Kelly, Chitayat, David, Porter, Forbes D., Panny, Susan R., Gulamali-Majid, Fizza, Tishkoff, Sarah A., Rebbeck, Timothy R., Gueye, Serigne M., Bailey-Wilson, Joan E., Brody, Lawrence C., Rotimi, Charles N., Marini, Joan C.
Formato: Artigo
Idioma:Inglês
Publicado em: 2012
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3393768/
https://ncbi.nlm.nih.gov/pubmed/22281939
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2011.44
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