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Article

Cryptic exon activation in SLC12A3 in Gitelman syndrome.

Journal of human genetics - 1 Feb 2017

Nozu Kandai, Nozu Yoshimi, Nakanishi Keita, Konomoto Takao, Horinouchi Tomoko, Shono Akemi, Morisada Naoya, Minamikawa Shogo, Yamamura Tomohiko, Fujimura Junya, Nakanishi Koichi, Ninchoji Takeshi, Kaito Hiroshi, Morioka Ichiro, Taniguchi-Ikeda Mariko, Vorechovsky Igor, Iijima Kazumoto

Abstract excerpt

Gitelman syndrome (GS) is an autosomal recessive renal tubulopathy characterized by hypokalemic metabolic alkalosis with hypocalciuria and hypomagnesemia. GS clinical symptoms range from mild weakness to muscular cramps, paralysis or even sudden death as a result of cardiac arrhythmia. GS is caused by loss-of-function mutations in the solute carrier family 12 member 3 (SLC12A3) gene, but molecular mechanisms...

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Identifiers

PMID: 27784896
DOI: 10.1038/jhg.2016.129

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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