Mixed Bartter-Gitelman syndrome: an inbred family with a heterogeneous phenotype expression of a novel variant in the CLCNKB gene (Q37687103)

22 August 2017

Mixed Bartter-Gitelman syndrome: an inbred family with a heterogeneous phenotype expression of a novel variant in the CLCNKB gene (English)

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22 August 2017

1 reference

Amar Al-Shibli

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22 August 2017

Madinah Yusuf

series ordinal

2

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22 August 2017

Issam Abounajab

series ordinal

3

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22 August 2017

Patrick J Willems

series ordinal

4

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22 August 2017

language of work or name

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18 February 2014

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22 August 2017

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22 August 2017

3

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22 August 2017

96

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Creative Commons Attribution 2.0 Generic

22 August 2017

start time

18 February 2014

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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April 2022 Public Data File from Crossref

cites work

Gitelman or Bartter type 3 syndrome? A case of distal convoluted tubulopathy caused by CLCNKB gene mutation

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

23 August 2017

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Spectrum of mutations in Gitelman syndrome

23 August 2017

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Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome

23 August 2017

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An improved terminology and classification of Bartter-like syndromes

23 August 2017

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A Spanish founder mutation in the chloride channel gene, CLCNKB, as a cause of atypical Bartter syndrome in adult age

23 August 2017

1 reference

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Modifier genes play a significant role in the phenotypic expression of PKD1.

23 August 2017

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Novel mutations of the chloride channel Kb gene in two Japanese patients clinically diagnosed as Bartter syndrome with hypocalciuria

23 August 2017

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Bartter's and Gitelman's syndromes: from gene to clinic

23 August 2017

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A common sequence variation of the CLCNKB gene strongly activates ClC-Kb chloride channel activity

23 August 2017

1 reference

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Recent advances in molecular genetics of hereditary magnesium-losing disorders

23 August 2017

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A novel mutation in the chloride channel gene, CLCNKB, as a cause of Gitelman and Bartter syndromes

23 August 2017

1 reference

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

23 August 2017

1 reference

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In vivo role of CLC chloride channels in the kidney

23 August 2017

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Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome

23 August 2017

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Bartter syndrome: an overview

23 August 2017

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23 August 2017

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A Chinese Girl with Bartter Syndrome Type III due to a Novel Mutation and/or Single Nucleotide Polymorphisms (SNPs) in CLCNKB Gene

23 June 2018

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Bartter syndrome in two sisters with a novel mutation of the CLCNKB gene, one with deafness.

1 September 2018

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Identification and functional analysis of novel mutations of the CLCNKB gene in Chinese patients with classic Bartter syndrome

1 September 2018

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A founder mutation in the CLCNKB gene causes Bartter syndrome type III in Spain

1 September 2018

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A new mutation (intron 9 +1 G>T) in the SLC12A3 gene is linked to Gitelman syndrome in Gypsies

1 September 2018

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Clinical presentation of genetically defined patients with hypokalemic salt-losing tubulopathies.

1 September 2018

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How Bartter's and Gitelman's syndromes, and Dent's disease have provided important insights into the function of three renal chloride channels: ClC-Ka/b and ClC-5

1 September 2018

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12 December 2020

Molecular analysis of the CLCNKB gene in Japanese patients with classic Bartter syndrome

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12 December 2020

Gitelman syndrome due to p.A204T mutation in CLCNKB gene

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12 December 2020

Analysis of renal tubular electrolyte transporter genes in seven patients with hypokalemic metabolic alkalosis

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12 December 2020

A novel splicing mutation in CLCNKB in a Chinese patient with Bartter syndrome type III

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12 December 2020

DNA analysis of renal electrolyte transporter genes among patients suffering from Bartter and Gitelman syndromes: summary of mutation screening

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12 December 2020

Molecular analysis of patients with type III Bartter syndrome: picking up large heterozygous deletions with semiquantitative PCR

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12 December 2020

Identifiers

DOI

10.1186/2193-1801-3-96

1 reference

Dimensions Publication ID

22 August 2017

0 references

1 reference

22 August 2017

PubMed publication ID

24711981

1 reference