Exonic Mutations in the SLC12A3 Gene Cause Exon Skipping and Premature Termination in Gitelman Syndrome

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 associa...

תיאור מלא

שמור ב:
מידע ביבליוגרפי
הוצא לאור ב:J Am Soc Nephrol
Main Authors: 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
פורמט: Artigo
שפה:Inglês
יצא לאור: American Society of Nephrology 2015
נושאים:
Brief Communications
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC4310649/
https://ncbi.nlm.nih.gov/pubmed/25060058
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1681/ASN.2013091013
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