Article
Copy Number Variation at the APOL1 Locus.
PloS one - 1 Jan 2015
Ruchi Rupam, Genovese Giulio, Lee Jessica, Charoonratana Victoria T, Bernhardy Andrea J, Alper Seth L, Kopp Jeffrey B, Thadhani Ravi, Friedman David J, Pollak Martin R
Abstract excerpt
Two coding variants in the APOL1 gene (G1 and G2) explain most of the high rate of kidney disease in African Americans. APOL1-associated kidney disease risk inheritance follows an autosomal recessive pattern: The relative risk of kidney disease associated with inheritance of two high-risk variants is 7-30 fold, depending on the specific kidney phenotype. We wished to determine if the variability in phenotype...
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