(Q73226886)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10581498%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

title

Mutational analysis of the anion exchanger 3 gene in familial paroxysmal dystonic choreoathetosis linked to chromosome 2q (English)

1 reference

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2 November 2019

1 reference

1 reference

H Matsuo

1

1 reference

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2 November 2019

K Kamakura

2

1 reference

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2 November 2019

S Matsushita

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10581498%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

T Ohmori

4

1 reference

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2 November 2019

M Okano

5

1 reference

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2 November 2019

Y Tadano

6

1 reference

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2 November 2019

S Tsuji

7

1 reference

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2 November 2019

S Higuchi

8

1 reference

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2 November 2019

publication date

1 December 1999

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10581498%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics Part A

2 November 2019

published in

1 reference

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2 November 2019

volume

88

1 reference

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2 November 2019

issue

6

1 reference

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2 November 2019

page(s)

733-737

1 reference

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A gene for autosomal dominant paroxysmal choreoathetosis/spasticity (CSE) maps to the vicinity of a potassium channel gene cluster on chromosome 1p, probably within 2 cM between D1S443 and D1S197.

2 November 2019

cites work

1 reference

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Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991215%2988%3A6%3C733%3A%3AAID-AJMG27%3E3.0.CO%3B2-3

Sodium/hydrogen exchanger gene defect in slow-wave epilepsy mutant mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991215%2988%3A6%3C733%3A%3AAID-AJMG27%3E3.0.CO%3B2-3

Genomic structure of human anion exchanger 3 and its potential role in hereditary neurological disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991215%2988%3A6%3C733%3A%3AAID-AJMG27%3E3.0.CO%3B2-3

Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33-q35.

21 January 2018

1 reference

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Gene locus FPD1 of the dystonic Mount-Reback type of autosomal-dominant paroxysmal choreoathetosis.

21 January 2018

1 reference

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Paroxysmal dystonic choreoathetosis. Genetic linkage studies in a British family.

21 January 2018

1 reference

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Regulation of intracellular pH by a neuronal homolog of the erythrocyte anion exchanger

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991215%2988%3A6%3C733%3A%3AAID-AJMG27%3E3.0.CO%3B2-3

Familial paroxysmal dystonic choreoathetosis: clinical findings in a large Japanese family and genetic linkage to 2q.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991215%2988%3A6%3C733%3A%3AAID-AJMG27%3E3.0.CO%3B2-3

Identification of a mutation in the gene causing hyperkalemic periodic paralysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991215%2988%3A6%3C733%3A%3AAID-AJMG27%3E3.0.CO%3B2-3

Dihydropyridine receptor mutations cause hypokalemic periodic paralysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991215%2988%3A6%3C733%3A%3AAID-AJMG27%3E3.0.CO%3B2-3

Further localization of a gene for paroxysmal dystonic choreoathetosis to a 5-cM region on chromosome 2q34

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991215%2988%3A6%3C733%3A%3AAID-AJMG27%3E3.0.CO%3B2-3

Molecular cloning and physical and genetic mapping of the human anion exchanger isoform 3 (SLC2C) gene to chromosome 2q36.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991215%2988%3A6%3C733%3A%3AAID-AJMG27%3E3.0.CO%3B2-3

Molecular cloning, expression, and chromosomal localization of two isoforms of the AE3 anion exchanger from human heart

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991215%2988%3A6%3C733%3A%3AAID-AJMG27%3E3.0.CO%3B2-3

10.1002/(SICI)1096-8628(19991215)88:6<733::AID-AJMG27>3.0.CO;2-3

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10581498%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

1 reference