Four novel mutations in the thiazide-sensitive Na-Cl co-transporter gene in Japanese patients with Gitelman's syndrome | Zendy

Nobuki Maki | Zendy; Atsushi Komatsuda | Zendy; Hideki Wakui | Zendy; Hiroshi Ohtani | Zendy; Akihiro Kigawa | Zendy; Namiko Aiba | Zendy; Keiko Hamai | Zendy; Mitsuru Motegi | Zendy; Akihiko Yamaguchi | Zendy; Hirokazu Imai | Zendy; K Sawada | Zendy

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Four novel mutations in the thiazide-sensitive Na-Cl co-transporter gene in Japanese patients with Gitelman's syndrome

Author(s) -

Nobuki Maki,

Atsushi Komatsuda,

Hideki Wakui,

Hiroshi Ohtani,

Akihiro Kigawa,

Namiko Aiba,

Keiko Hamai,

Mitsuru Motegi,

Akihiko Yamaguchi,

Hirokazu Imai,

K Sawada

Publication year - 2004

Publication title -

nephrology dialysis transplantation

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.654

H-Index - 168

eISSN - 1460-2385

pISSN - 0931-0509

DOI - 10.1093/ndt/gfh239

Subject(s) - frameshift mutation , exon , compound heterozygosity , mutation , genetics , medicine , microbiology and biotechnology , gene , gene mutation , gitelman syndrome , population , complementary dna , biology , chemistry , hypomagnesemia , organic chemistry , magnesium , environmental health

Gitelman's syndrome (GS) is an autosomal recessive disorder resulting from inactivating mutations in the thiazide-sensitive Na-Cl co-transporter (NCCT) gene. To date, almost 90 mutations have been identified. It is possible that there is a population-specific distribution of mutations. In this study, we analysed mutations in the NCCT gene of seven Japanese patients with GS.

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