[Electrolyte disorders as a hallmark of monogenetic diseases].

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[Electrolyte disorders as a hallmark of monogenetic diseases].

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http://www.wikidata.org/entity/Q52865402

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2015 nî lūn-bûn

@nan

2015年の論文

@ja

2015年学术文章

@wuu

2015年学术文章

@zh

2015年学术文章

@zh-cn

2015年学术文章

@zh-hans

2015年学术文章

@zh-my

2015年学术文章

@zh-sg

2015年學術文章

@yue

2015年學術文章

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name

[Electrolyte disorders as a hallmark of monogenetic diseases].

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[Electrolyte disorders as a hallmark of monogenetic diseases].

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Item

label

[Electrolyte disorders as a hallmark of monogenetic diseases].

@en

[Electrolyte disorders as a hallmark of monogenetic diseases].

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[Electrolyte disorders as a hallmark of monogenetic diseases].

@en

[Electrolyte disorders as a hallmark of monogenetic diseases].

@nl

P1476

[Electrolyte disorders as a hallmark of monogenetic diseases].

@en

P2093

D Müller

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K Schröder

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P2860

Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption

CNNM2, encoding a basolateral protein required for renal Mg2+ handling, is mutated in dominant hypomagnesemia

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

A novel claudin 16 mutation associated with childhood hypercalciuria abolishes binding to ZO-1 and results in lysosomal mistargeting.

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

Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement

Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure

Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion

Novel TRPM6 mutations in 21 families with primary hypomagnesemia and secondary hypocalcemia

P304

739-744

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P31

scholarly article

P356

10.1007/S00108-015-3672-5

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P407

Af-Jarmal

P433

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

P478

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

P577

2015-07-01T00:00:00Z

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P698

26078045

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