Genotype, Phenotype, and Follow-Up in Taiwanese Patients with Salt-Losing Tubulopathy Associated withSLC12A3Mutation | Zendy

MinHua Tseng | Zendy; Sung-Sen Yang | Zendy; YuJuei Hsu | Zendy; YuWei Fang | Zendy; ChihJen Wu | Zendy; Jeng-Daw Tsai | Zendy; DawYang Hwang | Zendy; ShihHua Lin | Zendy

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Genotype, Phenotype, and Follow-Up in Taiwanese Patients with Salt-Losing Tubulopathy Associated withSLC12A3Mutation

Author(s) -

MinHua Tseng,

Sung-Sen Yang,

YuJuei Hsu,

YuWei Fang,

ChihJen Wu,

Jeng-Daw Tsai,

DawYang Hwang,

ShihHua Lin

Publication year - 2012

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2012-1707

Subject(s) - gitelman syndrome , hypocalciuria , tubulopathy , medicine , mutation , genetics , compound heterozygosity , phenotype , biology , endocrinology , gastroenterology , gene , hypomagnesemia , kidney , materials science , magnesium , metallurgy

Genotype, phenotype, and follow-up analysis is rarely performed in a large number of patients with Gitelman's syndrome (GS) caused by mutations in SLC12A3 encoding the thiazide-sensitive NaCl cotransporter.

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