A deep intronic mutation in the SLC12A3 gene leads to Gitelman syndrome
about
Hypokalemia, hypomagnesemia, hypocalciuria, and recurrent tetany: Gitelman syndrome in a Chinese pedigree and literature review.X-linked Alport syndrome caused by splicing mutations in COL4A5Recurrent deep intronic mutations in the SLC12A3 gene responsible for Gitelman's syndromeCerebral vasospasm after sub-arachnoid hemorrhage as a clinical predictor and phenotype for genetic association studyRole of pseudoexons and pseudointrons in human cancer.Clinical utility gene card for: Gitelman syndrome.Urinary proteomics for the study of genetic kidney diseases.Inherited and acquired disorders of magnesium homeostasis.Deep intronic mutations and human disease.Cryptic exon activation in SLC12A3 in Gitelman syndrome.Natural history of genetically proven autosomal recessive Alport syndrome.
P2860
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P2860
A deep intronic mutation in the SLC12A3 gene leads to Gitelman syndrome
description
2009 nî lūn-bûn
@nan
2009 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
A deep intronic mutation in the SLC12A3 gene leads to Gitelman syndrome
@ast
A deep intronic mutation in the SLC12A3 gene leads to Gitelman syndrome
@en
A deep intronic mutation in the SLC12A3 gene leads to Gitelman syndrome
@nl
type
label
A deep intronic mutation in the SLC12A3 gene leads to Gitelman syndrome
@ast
A deep intronic mutation in the SLC12A3 gene leads to Gitelman syndrome
@en
A deep intronic mutation in the SLC12A3 gene leads to Gitelman syndrome
@nl
prefLabel
A deep intronic mutation in the SLC12A3 gene leads to Gitelman syndrome
@ast
A deep intronic mutation in the SLC12A3 gene leads to Gitelman syndrome
@en
A deep intronic mutation in the SLC12A3 gene leads to Gitelman syndrome
@nl
P2093
P2860
P1433
P1476
A deep intronic mutation in the SLC12A3 gene leads to Gitelman syndrome
@en
P2093
Ei Ikegami
Hiroshi Kaito
Kandai Nozu
Kazumoto Iijima
Koichi Nakanishi
Masafumi Matsuo
Norishige Yoshikawa
Takehide Imai
Xue Jun Fu
Yoshimi Nozu
P2860
P2888
P356
10.1203/PDR.0B013E3181B9B4D3
P407
P577
2009-11-01T00:00:00Z
P5875
P6179
1034706188