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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Detaylı Bibliyografya
Yayımlandı:J Am Soc Nephrol
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: American Society of Nephrology 2015
Konular:
Brief Communications
Online Erişim: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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