Recurrent Deep Intronic Mutations in the SLC12A3 Gene Responsible for Gitelman's Syndrome | Zendy

YiFen Lo | Zendy; Kandai Nozu | Zendy; Kazumoto Iijima | Zendy; Takahiro Morishita | Zendy; Che-Chung Huang | Zendy; SungSen Yang | Zendy; HueyKang Sytwu | Zendy; YuWei Fang | Zendy; MinHua Tseng | Zendy; ShihHua Lin | Zendy

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Recurrent Deep Intronic Mutations in the SLC12A3 Gene Responsible for Gitelman's Syndrome

Author(s) -

YiFen Lo,

Kandai Nozu,

Kazumoto Iijima,

Takahiro Morishita,

Che-Chung Huang,

SungSen Yang,

HueyKang Sytwu,

YuWei Fang,

MinHua Tseng,

ShihHua Lin

Publication year - 2010

Publication title -

clinical journal of the american society of nephrology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.755

H-Index - 151

eISSN - 1555-905X

pISSN - 1555-9041

DOI - 10.2215/cjn.06730810

Subject(s) - gitelman syndrome , intron , mutation , genetics , compound heterozygosity , exon , gene , microbiology and biotechnology , biology , medicine , chemistry , hypomagnesemia , organic chemistry , magnesium

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.

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