(Q28254366)

English

A deep intronic mutation in the SLC12A3 gene leads to Gitelman syndrome

scientific article

In more languages

edit

Statements

instance of

scholarly article

0 references

title

A deep intronic mutation in the SLC12A3 gene leads to Gitelman syndrome (English)

0 references

1 reference

Kandai Nozu

1

0 references

Kazumoto Iijima

series ordinal

2

0 references

Yoshimi Nozu

series ordinal

3

0 references

Ei Ikegami

series ordinal

4

0 references

Takehide Imai

series ordinal

5

0 references

Xue Jun Fu

series ordinal

6

0 references

Hiroshi Kaito

series ordinal

7

0 references

Koichi Nakanishi

series ordinal

8

0 references

Norishige Yoshikawa

series ordinal

9

0 references

Masafumi Matsuo

series ordinal

10

0 references

language of work or name

English

0 references

publication date

November 2009

0 references

published in

Pediatric Research

0 references

volume

66

0 references

page(s)

590-3

0 references

issue

5

0 references

cites work

Gitelman's syndrome revisited: an evaluation of symptoms and health-related quality of life.

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181B9B4D3

retrieved

21 January 2018

Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181B9B4D3

retrieved

21 January 2018

Novel mutations in the thiazide-sensitive NaCl cotransporter gene in patients with Gitelman syndrome with predominant localization to the C-terminal domain.

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181B9B4D3

retrieved

21 January 2018

Transcriptional and functional analyses of SLC12A3 mutations: new clues for the pathogenesis of Gitelman syndrome.

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181B9B4D3

retrieved

21 January 2018

Identifiers

DOI

10.1203/PDR.0B013E3181B9B4D3

0 references

Dimensions Publication ID

1034706188

0 references

PubMed ID

19668106

0 references

ResearchGate publication ID

26729715

0 references

Springer Nature article ID

10.1203/pdr.0b013e3181b9b4d3

0 references

(Q28254366)

A deep intronic mutation in the SLC12A3 gene leads to Gitelman syndrome

Statements

Identifiers

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)