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Genetic heterogeneity and HOMOG analysis in British malignant hyperthermia families

Genetic heterogeneity and HOMOG analysis in British malignant hyperthermia families

http://www.wikidata.org/entity/Q33680329

about

Genetics and pathogenesis of malignant hyperthermia.Ankyrin-B is required for intracellular sorting of structurally diverse Ca2+ homeostasis proteins.Ryanodine receptor mutations in malignant hyperthermia and central core disease.RYR1 mutations causing central core disease are associated with more severe malignant hyperthermia in vitro contracture test phenotypes.Babies in Distress: Malignant Hyperthermia in Infancy Explored.Functional analysis of RYR1 variants linked to malignant hyperthermia.Identification of the Arg1086His mutation in the alpha subunit of the voltage-dependent calcium channel (CACNA1S) in a North American family with malignant hyperthermia.Novel skeletal muscle ryanodine receptor mutation in a large Brazilian family with malignant hyperthermia.Recent advances in the diagnosis of malignant hyperthermia susceptibility: how confident can we be of genetic testing?Sudden death due to malignant hyperthermia with a mutation of RYR1: autopsy, morphology and genetic analysis.

P2860

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P2860

Genetic heterogeneity and HOMOG analysis in British malignant hyperthermia families

http://www.wikidata.org/entity/Q33680329

description

1998 nî lūn-bûn

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1998 թուականի Մարտին հրատարակուած գիտական յօդուած

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1998 թվականի մարտին հրատարակված գիտական հոդված

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1998年の論文

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1998年論文

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1998年論文

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1998年論文

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1998年論文

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1998年論文

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1998年论文

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name

Genetic heterogeneity and HOMOG analysis in British malignant hyperthermia families

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Genetic heterogeneity and HOMOG analysis in British malignant hyperthermia families

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type

label

Genetic heterogeneity and HOMOG analysis in British malignant hyperthermia families

@ast

Genetic heterogeneity and HOMOG analysis in British malignant hyperthermia families

@en

prefLabel

Genetic heterogeneity and HOMOG analysis in British malignant hyperthermia families

@ast

Genetic heterogeneity and HOMOG analysis in British malignant hyperthermia families

@en

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P1433

Journal of Medical Genetics

P1476

Genetic heterogeneity and HOMOG analysis in British malignant hyperthermia families

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P2093

A D Stewart

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A F Markham

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F R Ellis

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J L Curran

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P J Halsall

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P M Hopkins

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R Robinson

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S P West

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W J Hall

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P2860

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

A genome wide search for susceptibility loci in three European malignant hyperthermia pedigrees

A second-generation linkage map of the human genome.

Localization of the gene encoding the alpha 2/delta-subunits of the L-type voltage-dependent calcium channel to chromosome 7q and analysis of the segregation of flanking markers in malignant hyperthermia susceptible families.

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.

Genetic mapping of the beta 1- and gamma-subunits of the human skeletal muscle L-type voltage-dependent calcium channel on chromosome 17q and exclusion as candidate genes for malignant hyperthermia susceptibility.

Identification of a mutation in porcine ryanodine receptor associated with malignant hyperthermia.

Diagnosis of susceptibility to malignant hyperthermia with flanking DNA markers.

Evidence for genetic heterogeneity of malignant hyperthermia susceptibility.

The G1021A substitution in the RYR1 gene does not cosegregate with malignant hyperthermia susceptibility in a British pedigree

P304

196-201

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scholarly article

P356

10.1136/JMG.35.3.196

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3

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P478

35

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1998-03-01T00:00:00Z

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13727824

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9541102

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1051241

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