Exonic mutations in the SLC12A3 gene cause exon skipping and premature termination in Gitelman syndrome.
about
Genome-wide ChIP-seq analysis of EZH2-mediated H3K27me3 target gene profile highlights differences between low- and high-grade astrocytic tumors.New SLC12A3 disease causative mutation of Gitelman's syndrome.Inherited, not acquired, Gitelman syndrome in a patient with Sjögren's syndrome: importance of genetic testing to distinguish the two forms.An in vitro splicing assay reveals the pathogenicity of a novel intronic variant in ATP6V0A4 for autosomal recessive distal renal tubular acidosis.A case of hypokalemia and proteinuria with a new mutation in the SLC12A3 Gene
P2860
Exonic mutations in the SLC12A3 gene cause exon skipping and premature termination in Gitelman syndrome.
description
2014 nî lūn-bûn
@nan
2014 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Exonic mutations in the SLC12A ...... mination in Gitelman syndrome.
@ast
Exonic mutations in the SLC12A ...... mination in Gitelman syndrome.
@en
type
label
Exonic mutations in the SLC12A ...... mination in Gitelman syndrome.
@ast
Exonic mutations in the SLC12A ...... mination in Gitelman syndrome.
@en
prefLabel
Exonic mutations in the SLC12A ...... mination in Gitelman syndrome.
@ast
Exonic mutations in the SLC12A ...... mination in Gitelman syndrome.
@en
P2093
P2860
P50
P356
P1476
Exonic mutations in the SLC12A ...... mination in Gitelman syndrome.
@en
P2093
Chitose Suzuki
Hisato Shima
Norma Vazquez
Takaaki Abe
Takayasu Kobayashi
Takehiro Suzuki
Tomohiro Nakayama
Yasuhiro Takeshima
Yasutoshi Akiyama
Yoichi Suzuki
P2860
P304
P356
10.1681/ASN.2013091013
P577
2014-07-24T00:00:00Z