Article
Exonic mutations in the SLC12A3 gene cause exon skipping and premature termination in Gitelman syndrome.
Journal of the American Society of Nephrology : JASN - 1 Feb 2015
Takeuchi Yoichi, Mishima Eikan, Shima Hisato, Akiyama Yasutoshi, Suzuki Chitose, Suzuki Takehiro, Kobayashi Takayasu, Suzuki Yoichi, Nakayama Tomohiro, Takeshima Yasuhiro, Vazquez Norma, Ito Sadayoshi, Gamba Gerardo, Abe Takaaki
Abstract excerpt
A variety of genetic backgrounds cause the loss of function of thiazide-sensitive sodium chloride cotransporter, encoded by SLC12A3, responsible for the phenotypes in Gitelman syndrome. Recently, the phenomenon of exon skipping, in which exonic mutations result in abnormal splicing, has been associated with various diseases. Specifically, mutations in exonic splicing enhancer (ESE) sequences can promote exon...
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