(Q24518336)

2 July 2017

title

Exclusion of defects in the skeletal muscle specific regions of the DHPR alpha 1 subunit as frequent causes of malignant hyperthermia (English)

1 reference

2 July 2017

main subject

malignant hyperthermia

1 reference

O'Brien RO

1

1 reference

2 July 2017

Taske NL

2

1 reference

2 July 2017

Hansbro PM

3

1 reference

2 July 2017

Matthaei KI

4

1 reference

2 July 2017

Hogan SP

5

1 reference

2 July 2017

Denborough MA

6

1 reference

2 July 2017

Foster PS

7

1 reference

2 July 2017

language of work or name

English

0 references

publication date

1 November 1995

1 reference

Journal of Medical Genetics

2 July 2017

published in

1 reference

2 July 2017

volume

32

1 reference

2 July 2017

issue

11

1 reference

2 July 2017

page(s)

913-914

1 reference

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

2 July 2017

cites work

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051750

24 March 2017

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051750

Primary structure of the receptor for calcium channel blockers from skeletal muscle

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051750

Exclusion of malignant hyperthermia susceptibility (MHS) from a putative MHS2 locus on chromosome 17q and of the alpha 1, beta 1, and gamma subunits of the dihydropyridine receptor calcium channel as candidates for the molecular defect

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051750

Critical roles of the S3 segment and S3-S4 linker of repeat I in activation of L-type calcium channels

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051750

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051750

Functional subunit structure of voltage-gated calcium channels

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051750

Identification of Susceptibility to Malignant Hyperpyrexia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051750

A mutation in the human ryanodine receptor gene associated with central core disease

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051750

Isolation of DNA from blood

29 November 2018

1 reference

12 December 2020

Molecular determinants of voltage-dependent inactivation in calcium channels

1 reference

12 December 2020

Polymorphisms and deduced amino acid substitutions in the coding sequence of the ryanodine receptor (RYR1) gene in individuals with malignant hyperthermia

1 reference

12 December 2020

Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia: implications for diagnosis and heterogeneity studies

1 reference

12 December 2020

Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia

1 reference

Crossref

https://api.crossref.org/works/10.1136%2FJMG.32.11.913

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1136/JMG.32.11.913

1 reference

OpenCitations bibliographic resource ID

2 July 2017

1603622

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1603622

1 reference