(Q28139223)

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Mutations in the chloride channel gene, CLCNKB, leading to a mixed Bartter-Gitelman phenotype

scientific article (publication date: December 2000)

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Mutations in the chloride channel gene, CLCNKB, leading to a mixed Bartter-Gitelman phenotype (English)

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N Jeck

1

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M Konrad

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2

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M Peters

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3

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S Weber

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4

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K E Bonzel

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5

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H W Seyberth

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6

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language of work or name

English

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publication date

December 2000

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published in

Pediatric Research

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volume

48

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issue

6

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page(s)

754-8

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cites work

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

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reference URL

https://api.crossref.org/works/10.1203%2F00006450-200012000-00009

retrieved

21 January 2018

Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. A new syndrome

1 reference

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Crossref

reference URL

https://api.crossref.org/works/10.1203%2F00006450-200012000-00009

retrieved

21 January 2018

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

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reference URL

https://api.crossref.org/works/10.1203%2F00006450-200012000-00009

retrieved

21 January 2018

Gitelman’s syndrome is genetically distinct from other forms of Bartter’s syndrome

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reference URL

https://api.crossref.org/works/10.1203%2F00006450-200012000-00009

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21 January 2018

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

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reference URL

https://api.crossref.org/works/10.1203%2F00006450-200012000-00009

retrieved

21 January 2018

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

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reference URL

https://api.crossref.org/works/10.1203%2F00006450-200012000-00009

retrieved

21 January 2018

Bartter's syndrome: the unsolved puzzle

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stated in

Crossref

reference URL

https://api.crossref.org/works/10.1203%2F00006450-200012000-00009

retrieved

21 January 2018

Gitelman disease associated with growth hormone deficiency, disturbances in vasopressin secretion and empty sella: a new hereditary renal tubular-pituitary syndrome?

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reference URL

https://api.crossref.org/works/10.1203%2F00006450-200012000-00009

retrieved

21 January 2018

Congenital hypokalemia with hypercalciuria in preterm infants: a hyperprostaglandinuric tubular syndrome different from Bartter syndrome

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reference URL

https://api.crossref.org/works/10.1203%2F00006450-200012000-00009

retrieved

21 January 2018

Mechanism of calcium transport stimulated by chlorothiazide in mouse distal convoluted tubule cells

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reference URL

https://api.crossref.org/works/10.1203%2F00006450-200012000-00009

retrieved

21 January 2018

Cellular mechanisms of chlorothiazide and cellular potassium depletion on Mg2+ uptake in mouse distal convoluted tubule cells

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stated in

Crossref

reference URL

https://api.crossref.org/works/10.1203%2F00006450-200012000-00009

retrieved

21 January 2018

(Q28139223)

Mutations in the chloride channel gene, CLCNKB, leading to a mixed Bartter-Gitelman phenotype

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