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...

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Detalhes bibliográficos
Publicado no: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
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Nephrology 2015
Assuntos:
Brief Communications
Acesso em linha: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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