Results 191 to 200 of about 7,332 (203)

Unmasking of a Heterozygous SLC12A3 Mutation

Journal of the American Society of Nephrology
Rajeev Rohatgi, Chang Xu
openaire   +1 more source

A triple SLC12A3 heterozygous mutations in Gitelman syndrome with renal calculi.

Hippokratia
Gitelman syndrome (GS) is a rare autosomal recessive salt-losing tubulopathy. Mutations in the SLC12A3 gene encoding the renal thiazide-sensitive Na/Cl cotransporter in the distal renal tubule, cause GS. Identifying biallelic inactivating mutations in the SLC12A3 gene is the most common finding in GS, while the detection of renal calculi is relatively ...
Y, Jiang, L, Mou, X, Li
openaire   +1 more source

A variant reclassification of SLC12A3 of Gitelman syndrome

Clinica Chimica Acta
C. Law, T.K. Ling, C. Lam
openaire   +1 more source

Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl Co-transporter in Italian patients with Gitelman syndrome

Human Mutation, 2002
Marie-Louise Syrén, Giacomo Colussi, Alberto Edefonti   +2 more
exaly  

A new mutation (intron 9 +1 G>T) in the SLC12A3 gene is linked to Gitelman syndrome in Gypsies

Kidney International, 2004
Eliecer Coto, Julian Rodriguez, Victoria Alvarez   +2 more
exaly  

Arg913Gln of SLC12A3 gene promotes development and progression of end-stage renal disease in Chinese type 2 diabetes mellitus

Molecular and Cellular Biochemistry, 2017
Rong Zhang, Juan Zhang, Niansong Wang
exaly  

Acquired Gitelman Syndrome in an Anti-SSA Antibody-positive Patient with a <i>SLC12A3</i> Heterozygous Mutation

Internal Medicine, 2016
Tadashi Hosoya, Takayasu Mori
exaly  

Generation and analysis of the thiazide-sensitive Na+-Cl− cotransporter (Ncc/Slc12a3) Ser707X knockin mouse as a model of Gitelman syndrome

Human Mutation, 2010
Shu-Wha Lin, Yu-Juei Hsu, Shih-Hua Lin
exaly  

[SLC12A3].

Nihon rinsho. Japanese journal of clinical medicine, 2006
openaire   +1 more source

Acquired Gitelman syndrome in a primary Sjögren syndrome patient with a SLC12A3 heterozygous mutation: A case report and literature review

Nephrology, 2017
Xiangchen Gu, Yanqiu Xu
exaly