(Q46473237)

22 December 2017

title

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

1 reference

22 December 2017

author

Luis Castaño

5

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22 December 2017

Guiomar Perez de Nanclares

object named as

Gustavo Pérez de Nanclares

3

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Jose Ramon Bilbao

object named as

José Ramón Bilbao

4

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author name string

Juan Rodríguez-Soriano

1

1 reference

22 December 2017

Alfredo Vallo

2

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22 December 2017

language of work or name

1 reference

5 May 2005

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22 December 2017

published in

Pediatric Nephrology

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22 December 2017

volume

20

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22 December 2017

issue

7

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22 December 2017

page(s)

891-896

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22 December 2017

https://scigraph.springernature.com/pub.10.1007/s00467-005-1867-z

exact match

0 references

cites work

Molecular structure and physiological function of chloride channels

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00467-005-1867-Z

Functional Characterization of a Calcium-Sensing Receptor Mutation in Severe Autosomal Dominant Hypocalcemia with a Bartter-Like Syndrome

21 January 2018

1 reference

12 December 2020

Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK

1 reference

12 December 2020

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

1 reference

12 December 2020

Assignment of the genes encoding the human chloride channels, CLCNKA and CLCNKB, to 1p36 and of CLCN3 to 4q32-q33 by in situ hybridization

1 reference

12 December 2020

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

1 reference

12 December 2020

1 reference

12 December 2020

Functional and structural analysis of ClC-K chloride channels involved in renal disease.

1 reference

12 December 2020

The molecular physiology of electroneutral cation-chloride cotransport

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutational spectrum of the EPM2A gene in progressive myoclonus epilepsy of Lafora: high degree of allelic heterogeneity and prevalence of deletions

1 reference

12 December 2020

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

1 reference

12 December 2020

Gene conversion (655G splicing mutation) and the founder effect (Gln318Stop) contribute to the most frequent severe point mutations in congenital adrenal hyperplasia (21-hydroxylase deficiency) in the Spanish population

1 reference

12 December 2020

Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients

1 reference

12 December 2020

Bartter's syndrome presenting with features resembling renal tubular acidosis. Improvement of renal tubular defects by indomethacin

1 reference

12 December 2020

High prevalence of the C634Y mutation in the RET proto-oncogene in MEN 2A families in Spain

1 reference

12 December 2020

Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects.

1 reference

12 December 2020

Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2

1 reference

12 December 2020

Renal handling of water and sodium in infancy and childhood: A study using clearance methods during hypotonic saline diuresis

1 reference

12 December 2020

Salt wasting and deafness resulting from mutations in two chloride channels

1 reference

12 December 2020

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

1 reference

12 December 2020

Genotype/phenotype observations in African Americans with Bartter syndrome

1 reference

12 December 2020

A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene

1 reference

12 December 2020

Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study

1 reference

12 December 2020

Association between activating mutations of calcium-sensing receptor and Bartter's syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

1 reference

12 December 2020

Molecular analysis and clinical findings in the Spanish Gaucher disease population: putative haplotype of the N370S ancestral chromosome

1 reference

12 December 2020

10.1007/S00467-005-1867-Z

Identifiers

DOI

1 reference

22 December 2017

1 reference

22 December 2017