Clinical utility gene card for: Gitelman syndrome.

about

Clinical utility gene card for: Gitelman syndrome.

Item

http://www.wikidata.org/entity/Q38413247

description

2011 nî lūn-bûn

@nan

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

Clinical utility gene card for: Gitelman syndrome.

@en

type

Item

label

Clinical utility gene card for: Gitelman syndrome.

@en

prefLabel

Clinical utility gene card for: Gitelman syndrome.

@en

P1476

Clinical utility gene card for: Gitelman syndrome.

@en

P2093

Erik-Jan Kamsteeg

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

Nine Vam Knoers

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

P2860

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

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

A novel SLC12A3 splicing mutation skipping of two exons and preliminary screening for alternative splice variants in human kidney

Heterozygous mutations of the sodium chloride cotransporter in Chinese children: prevalence and association with blood pressure

Identification of five novel variants in the thiazide-sensitive NaCl co-transporter gene in Chinese patients with Gitelman syndrome

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

Gitelman syndrome.

Inherited forms of renal hypomagnesemia: an update.

Reevaluation of the criteria for the clinical diagnosis of Gitelman syndrome.

P2888

ejhg.2011.14

P304

521-531

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

P31

scholarly article

P356

10.1038/EJHG.2011.14

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P433

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

P478

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

P50

Olivier Devuyst

P577

2011-02-23T00:00:00Z

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

P5875

49857512

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P698

21343949

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

P932

3172918

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

Clinical utility gene card for: Gitelman syndrome.

about

Clinical utility gene card for: Gitelman syndrome.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P50

P577

P5875

P698

P932

P356

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P50

P577

P5875

P698

P932