Missense mutations in the APOL1 gene are highly associated with end stage kidney disease risk previously attributed to the MYH9 gene

MYH9 has been proposed as a major genetic risk locus for a spectrum of nondiabetic end stage kidney disease (ESKD). We use recently released sequences from the 1000 Genomes Project to identify two western African-specific missense mutations (S342G and I384M) in the neighboring APOL1 gene, and demons...

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Bibliographic Details
Main Authors: Tzur, Shay, Rosset, Saharon, Shemer, Revital, Yudkovsky, Guennady, Selig, Sara, Tarekegn, Ayele, Bekele, Endashaw, Bradman, Neil, Wasser, Walter G., Behar, Doron M., Skorecki, Karl
Format: Artigo
Language:Inglês
Published: Springer-Verlag 2010
Subjects:
Short Report
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC2921485/
https://ncbi.nlm.nih.gov/pubmed/20635188
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-010-0861-0
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