Article
Next generation sequencing search for uromodulin gene variants related with impaired renal function.
Molecular biology reports - 1 Sept 2015
Gómez Juan, Díaz-Corte Carmen, Tranche Salvador, Alvarez Francisco, Iglesias Sara, Alonso Belén, Coto Eliecer
Abstract excerpt
Uromodulin gene (UMOD) mutations have been linked to rare forms of mendelian dominant medullary cystic kidney disease and familial hyperuricemia. In addition, common single nucleotide polymorphisms in the UMOD promoter have been associated with the risk for impaired renal function and chronic kidney disease. Our main purpose was to identify UMOD variants related with impaired renal function in an elderly...
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