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Article

Recurrent deep intronic mutations in the SLC12A3 gene responsible for Gitelman's syndrome.

Clinical journal of the American Society of Nephrology : CJASN - 1 Mar 2011

Lo Yi-Fen, Nozu Kandai, Iijima Kazumoto, Morishita Takahiro, Huang Che-Chung, Yang Sung-Sen, Sytwu Huey-Kang, Fang Yu-Wei, Tseng Min-Hua, Lin Shih-Hua

Abstract excerpt

BACKGROUND AND OBJECTIVES: Gitelman's syndrome (GS) is an autosomal recessive renal tubular disorder caused by mutations in the SLC12A3 gene encoding the thiazide-sensitive Na(+)-Cl(-) cotransporter (NCC). Despite meticulous sequencing of genomic DNA, approximately one-third of GS patients are negative or heterozygotes for the known mutations. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: Because blood...

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Identifiers

PMID: 21051746
DOI: 10.2215/CJN.06730810
PMCID: PMC3082423

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DCT

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