Recurrent Deep Intronic Mutations in the SLC12A3 Gene Responsible for Gitelman's Syndrome

BACKGROUND AND OBJECTIVES: Gitelman's syndrome (GS) is an autosomal recessive renal tubular disorder caused by mutations in the SLC12A3 gene encoding the thiazide-sensitive Na(+)-Cl(−) cotransporter (NCC). Despite meticulous sequencing of genomic DNA, approximately one-third of GS patients are...

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Main Authors: Lo, Yi-Fen, Nozu, Kandai, Iijima, Kazumoto, Morishita, Takahiro, Huang, Che-Chung, Yang, Sung-Sen, Sytwu, Huey-Kang, Fang, Yu-Wei, Tseng, Min-Hua, Lin, Shih-Hua
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Nephrology 2011
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Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3082423/
https://ncbi.nlm.nih.gov/pubmed/21051746
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2215/CJN.06730810
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