(Q44833816)

6 December 2017

title

Four novel mutations in the thiazide-sensitive Na-Cl co-transporter gene in Japanese patients with Gitelman's syndrome (English)

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6 December 2017

Nobuki Maki

1

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6 December 2017

Atsushi Komatsuda

2

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6 December 2017

Hideki Wakui

3

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6 December 2017

Hiroshi Ohtani

4

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6 December 2017

Akihiko Kigawa

5

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6 December 2017

Namiko Aiba

6

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6 December 2017

Keiko Hamai

7

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6 December 2017

Mutsuhito Motegi

8

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6 December 2017

Akihiko Yamaguchi

9

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6 December 2017

Hirokazu Imai

10

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6 December 2017

Ken-ichi Sawada

11

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6 December 2017

language of work or name

English

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publication date

6 April 2004

1 reference

Nephrology Dialysis Transplantation

6 December 2017

published in

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6 December 2017

volume

19

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6 December 2017

issue

7

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6 December 2017

page(s)

1761-1766

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

6 December 2017

cites work

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFH239

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFH239

Identification of a cDNA encoding a thiazide-sensitive sodium-chloride cotransporter from the human and its mRNA expression in various tissues

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFH239

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFH239

Functional expression of mutations in the human NaCl cotransporter: evidence for impaired routing mechanisms in Gitelman's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFH239

Novel NCCT gene mutations as a cause of Gitelman's syndrome and a systematic review of mutant and polymorphic NCCT alleles.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFH239

A new mutation (intron 9 +1 G>T) in the SLC12A3 gene is linked to Gitelman syndrome in Gypsies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFH239

Analysis of mutations in alpha-actinin 4 and podocin genes of patients with chronic renal failure due to sporadic focal segmental glomerulosclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFH239

Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFH239

Rhmod syndrome: a family study of the translation-initiator mutation in the Rh50 glycoprotein gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFH239

Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFH239

An analysis of 5'-noncoding sequences from 699 vertebrate messenger RNAs

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFH239

A novel mutation in the chloride channel gene, CLCNKB, as a cause of Gitelman and Bartter syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFH239

21 January 2018

Identifiers

DOI

10.1093/NDT/GFH239

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6 December 2017

1 reference