Novel missense mutations of WNK1 in patients with hypokalemic salt-losing tubulopathies.

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A novel mutation in exon 9 of Cullin 3 gene contributes to aberrant splicing in pseudohypoaldosteronism type II.

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Q52670815-B69FE92E-56D8-43A2-9B88-41F670F683F3

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Novel missense mutations of WNK1 in patients with hypokalemic salt-losing tubulopathies.

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http://www.wikidata.org/entity/Q43767582

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2012 nî lūn-bûn

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2012年の論文

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2012年学术文章

@wuu

2012年学术文章

@zh-cn

2012年学术文章

@zh-hans

2012年学术文章

@zh-my

2012年学术文章

@zh-sg

2012年學術文章

@yue

2012年學術文章

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2012年學術文章

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Novel missense mutations of WNK1 in patients with hypokalemic salt-losing tubulopathies.

@en

Novel missense mutations of WNK1 in patients with hypokalemic salt-losing tubulopathies.

@nl

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Item

label

Novel missense mutations of WNK1 in patients with hypokalemic salt-losing tubulopathies.

@en

Novel missense mutations of WNK1 in patients with hypokalemic salt-losing tubulopathies.

@nl

prefLabel

Novel missense mutations of WNK1 in patients with hypokalemic salt-losing tubulopathies.

@en

Novel missense mutations of WNK1 in patients with hypokalemic salt-losing tubulopathies.

@nl

P1476

Novel missense mutations of WNK1 in patients with hypokalemic salt-losing tubulopathies.

@en

P2093

C Zhang

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

F Huang

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

G Jiang

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

J Chang

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

R Li

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

Y Zhu

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

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

Intersectin links WNK kinases to endocytosis of ROMK1

Bartter- and Gitelman-like syndromes: salt-losing tubulopathies with loop or DCT defects.

Human hypertension caused by mutations in WNK kinases

Salt wasting and deafness resulting from mutations in two chloride channels

Novel SLC12A3 mutations in Chinese patients with Gitelman's syndrome

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

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

A cytoplasmic domain mutation in ClC-Kb affects long-distance communication across the membrane

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545-552

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

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scholarly article

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10.1111/CGE.12008

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

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

P478

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

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2012-09-27T00:00:00Z

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

P698

22934535

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

Novel missense mutations of WNK1 in patients with hypokalemic salt-losing tubulopathies.

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P2860

P2860

Novel missense mutations of WNK1 in patients with hypokalemic salt-losing tubulopathies.

description

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type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P698