Article
Absence of AVPR2 copy number variation in eunatremic and dysnatremic subjects in non-Hispanic Caucasian populations.
Physiological genomics - 4 Feb 2010
Fu Yi, Chen Zhan, Blakemore Alexandra I F, Orwoll Eric, Cohen David M
Abstract excerpt
Copy number variation (CNV) is increasingly recognized as a source of phenotypic variation among humans. We hypothesized that a CNV in the human arginine vasopressin receptor-2 gene (AVPR2) would be associated with serum sodium concentration based on the following lines of evidence: 1) the protein product of the AVPR2 gene is essential for renal water conservation; 2) mutations in the AVPR2 gene are associated...
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