A pseudo-dominant form of Gitelman's syndrome.

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Gitelman syndrome in a South African family presenting with hypokalaemia and unusual food cravings.Two mutations in the thiazide-sensitive NaCl co-transporter gene in a Romanian Gitelman syndrome patient: case report.

P2860

Q36261670-B4CFD52D-9291-46BD-8A70-E81AB724C234 Q49514710-7A5B2ED7-AD8E-4F6D-9DFD-89945E524089

P2860

A pseudo-dominant form of Gitelman's syndrome.

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http://www.wikidata.org/entity/Q35574488

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2011 nî lūn-bûn

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2011年の論文

@ja

2011年論文

@yue

2011年論文

@zh-hant

2011年論文

@zh-hk

2011年論文

@zh-mo

2011年論文

@zh-tw

2011年论文

@wuu

2011年论文

@zh

2011年论文

@zh-cn

name

A pseudo-dominant form of Gitelman's syndrome.

@ast

A pseudo-dominant form of Gitelman's syndrome.

@en

type

Item

label

A pseudo-dominant form of Gitelman's syndrome.

@ast

A pseudo-dominant form of Gitelman's syndrome.

@en

prefLabel

A pseudo-dominant form of Gitelman's syndrome.

@ast

A pseudo-dominant form of Gitelman's syndrome.

@en

P1476

A pseudo-dominant form of Gitelman's syndrome.

@en

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Annabelle Venisse

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Carole Collet-Gaudillat

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Marion Vallet

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Pascal Houillier

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Renaud de La Faille

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Rosa Vargas-Poussou

http://www.w3.org/2001/XMLSchema#string

Valérie Nau

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P2860

Gitelman syndrome

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

Rare independent mutations in renal salt handling genes contribute to blood pressure variation

Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations?

A new familial disorder characterized by hypokalemia and hypomagnesemia

Spectrum of mutations in Gitelman syndrome.

Novel molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman syndrome.

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

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386-389

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scholarly article

case report

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10.1093/NDTPLUS/SFR094

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P433

http://www.w3.org/2001/XMLSchema#string

P478

http://www.w3.org/2001/XMLSchema#string

P50

Xavier Jeunemaitre

Rosa Vargas-Poussou

P577

2011-08-22T00:00:00Z

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P5875

274628044

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P698

25984200

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P932

4421668

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A pseudo-dominant form of Gitelman's syndrome.

about

P2860

P2860

A pseudo-dominant form of Gitelman's syndrome.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P5875

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P5875

P698

P932