(Q43548781)

English

Identification of the Arg1086His mutation in the alpha subunit of the voltage-dependent calcium channel (CACNA1S) in a North American family with malignant hyperthermia

scientific article published in March 2001

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

24 November 2017

Identification of the Arg1086His mutation in the alpha subunit of the voltage-dependent calcium channel (CACNA1S) in a North American family with malignant hyperthermia (English)

1 reference

Europe PubMed Central

PubMed publication ID

24 November 2017

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author name string

Stewart SL

1

1 reference

Europe PubMed Central

PubMed publication ID

24 November 2017

Hogan K

2

1 reference

Europe PubMed Central

PubMed publication ID

24 November 2017

Rosenberg H

3

1 reference

Europe PubMed Central

PubMed publication ID

24 November 2017

Fletcher JE

4

1 reference

Europe PubMed Central

PubMed publication ID

24 November 2017

publication date

1 March 2001

1 reference

Europe PubMed Central

PubMed publication ID

24 November 2017

Clinical Genetics

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Europe PubMed Central

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24 November 2017

59

1 reference

Europe PubMed Central

PubMed publication ID

24 November 2017

3

1 reference

Europe PubMed Central

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24 November 2017

178-184

1 reference

Europe PubMed Central

PubMed publication ID

24 November 2017

Identification of a Mutation in Porcine Ryanodine Receptor Associated with Malignant Hyperthermia

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590306.X

21 January 2018

A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590306.X

21 January 2018

Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590306.X

21 January 2018

Malignant-hyperthermia susceptibility is associated with a mutation of the alpha 1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590306.X

21 January 2018

Genotype and phenotype relationships for mutations in the ryanodine receptor in patients referred for diagnosis of malignant hyperthermia.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590306.X

21 January 2018

Failure to identify the ryanodine receptor G1021A mutation in a large North American population with malignant hyperthermia.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590306.X

21 January 2018

The sensitivity and specificity of the caffeine-halothane contracture test: a report from the North American Malignant Hyperthermia Registry. The North American Malignant Hyperthermia Registry of MHAUS.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590306.X

21 January 2018

Genetic heterogeneity and HOMOG analysis in British malignant hyperthermia families

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590306.X

21 January 2018

Evidence for a novel osteosarcoma tumor-suppressor gene in the chromosome 18 region genetically linked with Paget disease of bone

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590306.X

21 January 2018

Genetic linkage of Paget disease of the bone to chromosome 18q

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590306.X

21 January 2018

The structural organization of the human skeletal muscle ryanodine receptor (RYR1) gene

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590306.X

21 January 2018

Masseter muscle rigidity associated with glycine1306-to-alanine mutation in the adult muscle sodium channel alpha-subunit gene.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590306.X

21 January 2018

Sodium channel in human malignant hyperthermia.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590306.X

21 January 2018

ATX II, a sodium channel toxin, sensitizes skeletal muscle to halothane, caffeine, and ryanodine.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590306.X

21 January 2018

Towards a unified nomenclature describing voltage-gated calcium channel genes

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590306.X

21 January 2018

Multiple interacting gene products may influence susceptibility to malignant hyperthermia.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590306.X

21 January 2018

Malignant hyperthermia

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590306.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Malignant hyperthermia: excitation-contraction coupling, Ca2+ release channel, and cell Ca2+ regulation defects

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590306.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Discordance between malignant hyperthermia susceptibility and RYR1 mutation C1840T in two Scandinavian MH families exhibiting this mutation.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590306.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Search for three known mutations in the RYR1 gene in 48 Danish families with malignant hyperthermia.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590306.X

7 January 2021

based on heuristic

inferred from DOI database lookup

A search for three known RYR1 gene mutations in 41 Swedish families with predisposition to malignant hyperthermia

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590306.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular pathophysiology of voltage-gated ion channels

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590306.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Malignant hyperthermia

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590306.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Myotonia fluctuans. A third type of muscle sodium channel disease

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590306.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Altered sodium current response to intracellular fatty acids in halothane-hypersensitive skeletal muscle.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590306.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1034/J.1399-0004.2001.590306.X

1 reference

Europe PubMed Central

PubMed publication ID

24 November 2017

release_krj24w6shnarzbpkgpaouftb5e

1 reference

https://api.fatcat.wiki/v0/release/krj24w6shnarzbpkgpaouftb5e

24 November 2022

based on heuristic

mapped directly with Wikidata item

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

24 November 2017

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