(Q35882184)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8900229%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

title

Novel molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8900229%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

author name string

N Mastroianni

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8900229%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

A Bettinelli

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8900229%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

M Bianchetti

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8900229%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

G Colussi

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8900229%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

M De Fusco

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8900229%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

F Sereni

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8900229%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

A Ballabio

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8900229%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

G Casari

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8900229%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

language of work or name

English

0 references

publication date

1 November 1996

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8900229%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

20 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8900229%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

volume

59

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8900229%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

issue

5

1 reference

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20 October 2019

page(s)

1019-1026

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8900229%20AND%20SRC:MED&resulttype=core&format=json

Molecular cloning, expression pattern, and chromosomal localization of the human Na-Cl thiazide-sensitive cotransporter (SLC12A3)

20 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914834

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914834

Sodium dependence of the Na(+)-H+ exchanger in the pre-steady state. Implications for the exchange mechanism.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914834

A new familial disorder characterized by hypokalemia and hypomagnesemia

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914834

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914834

The skeletal muscle chloride channel in dominant and recessive human myotonia

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914834

Use of calcium excretion values to distinguish two forms of primary renal tubular hypokalemic alkalosis: Bartter and Gitelman syndromes

11 July 2018

1 reference

12 December 2020

Bartter's syndrome: evidence suggesting a distal tubular defect in a hypocalciuric variant of the syndrome

1 reference

12 December 2020

Calcium metabolism and calciotropic hormone levels in Gitelman's syndrome

1 reference

12 December 2020

Genetic heterogeneity in tubular hypomagnesemia-hypokalemia with hypocalcuria (Gitelman's syndrome)

1 reference

12 December 2020

Acute intermittent porphyria in Finland: 19 mutations in the porphobilinogen deaminase gene

1 reference

12 December 2020

Shaker K+ channel T1 domain self-tetramerizes to a stable structure

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8900229%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

PubMed publication ID

8900229

1 reference