Search for three known mutations in the RYR1 gene in 48 Danish families with malignant hyperthermia
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1994.tb04406.x/fullpdf
Reference13 articles.
1. Central core disease and malignant hyperpyrexia;Denborough;Br Med J,1973
2. A protocol for the investigation of malignant hyperpyrexia (MH) susceptibility;European Malignant Hyperpyrexia Group;Br J Anaesth,1984
3. Laboratory diagnosis of malignant hyperpyrexia susceptibility (MHS);European Malignant Hyperpyrexia Group;Br J Anaesth,1985
4. A substitution for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia;Gillard;Genomics,1991
5. Polymorphisms and deduced amino acid substitutions and the coding sequence of the ryanodine receptor (RYR1) gene in individuals with malignant hyperthermia;Gillard;Genomics,1992
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1. Preclinical model systems of ryanodine receptor 1-related myopathies and malignant hyperthermia: a comprehensive scoping review of works published 1990–2019;Orphanet Journal of Rare Diseases;2020-05-07
2. Harnessing Omics Big Data in Nine Vertebrate Species by Genome-Wide Prioritization of Sequence Variants with the Highest Predicted Deleterious Effect on Protein Function;OMICS: A Journal of Integrative Biology;2018-06
3. Failure to identify the ryanodine receptor G1021A mutation in a large North American population with malignant hyperthermia;Clinical Genetics;2008-06-28
4. Discordance between malignant hyperthermia susceptibility and RYR1 mutation C1840T in two Scandinavian MH families exhibiting this mutation;Clinical Genetics;2008-06-28
5. Malignant hyperthermia susceptibility, an autosomal dominant disorder?;Clinical Genetics;2008-06-28
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