TRANSLATIONAL PHYSIOLOGY Absence of AVPR2 copy number variation in eunatremic and dysnatremic subjects in non-Hispanic Caucasian populations
نویسندگان
چکیده
Yi Fu, Zhan Chen, Alexandra I. F. Blakemore, Eric Orwoll, and David M. Cohen Division of Nephrology and Hypertension and Division of Endocrinology and Metabolism, Department of Medicine, Oregon Health and Science University, and Portland Department of Veterans Affairs Medical Center, Portland, Oregon; and Department of Genomic Medicine, Imperial College London, Hammersmith Hospital Campus, London, United Kingdom
منابع مشابه
Absence of AVPR2 copy number variation in eunatremic and dysnatremic subjects in non-Hispanic Caucasian populations.
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 gen...
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