×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperthermia susceptibility type 1
0.700
GeneticVariation
UNIPROT
Identification and functional characterization of a novel ryanodine receptor mutation causing malignant hyperthermia in North American and South American families.
11525881 2001
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperthermia susceptibility type 1
0.700
GeneticVariation
UNIPROT
Identification of a novel mutation in the ryanodine receptor gene (RYR1) in patients with malignant hyperthermia.
11241852 2001
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperthermia susceptibility type 1
0.700
GeneticVariation
UNIPROT
Malignant hyperthermia in infancy and identification of novel RYR1 mutation.
10823104 2000
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperthermia susceptibility type 1
0.700
GeneticVariation
UNIPROT
A novel ryanodine receptor mutation and genotype-phenotype correlation in a large malignant hyperthermia New Zealand Maori pedigree.
10888602 2000
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperthermia susceptibility type 1
0.700
GeneticVariation
UNIPROT
Novel mutation in the RYR1 gene (R2454C) in a patient with malignant hyperthermia.
10612851 2000
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperthermia susceptibility type 1
0.700
GeneticVariation
UNIPROT
Screening of the ryanodine receptor gene in 105 malignant hyperthermia families: novel mutations and concordance with the in vitro contracture test.
10484775 1999
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperthermia susceptibility type 1
0.700
GeneticVariation
UNIPROT
Here we report single strand conformation polymorphism (SSCP) screening for nine of the most frequent RYR1 mutations using genomic DNA isolated from MHS patients.
10051009 1999
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperthermia susceptibility type 1
0.700
GeneticVariation
UNIPROT
Novel mutations at a CpG dinucleotide in the ryanodine receptor in malignant hyperthermia.
9450902 1998
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperthermia susceptibility type 1
0.700
GeneticVariation
UNIPROT
Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation.
9497245 1998
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperthermia susceptibility type 1
0.700
GeneticVariation
UNIPROT
Identification of heterozygous and homozygous individuals with the novel RYR1 mutation Cys35Arg in a large kindred.
9066328 1997
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperthermia susceptibility type 1
0.700
GeneticVariation
UNIPROT
Detection of a novel mutation at amino acid position 614 in the ryanodine receptor in malignant hyperthermia.
9389851 1997
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperthermia susceptibility type 1
0.700
GeneticVariation
UNIPROT
We describe here the identification of a novel mutation, Arg552Trp, in the RYR1 gene, which is clearly linked to the MHS phenotype in a large, well characterised Irish pedigree.
9138151 1997
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperthermia susceptibility type 1
0.700
GeneticVariation
UNIPROT
Ryanodine receptor gene point mutation and malignant hyperthermia susceptibility.
7751854 1995
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperthermia susceptibility type 1
0.700
GeneticVariation
UNIPROT
Detection of a novel RYR1 mutation in four malignant hyperthermia pedigrees.
7849712 1994
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperthermia susceptibility type 1
0.700
GeneticVariation
UNIPROT
The substitution of Arg for Gly2433 in the human skeletal muscle ryanodine receptor is associated with malignant hyperthermia.
7881417 1994
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperthermia susceptibility type 1
0.700
GeneticVariation
UNIPROT
Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia: implications for diagnosis and heterogeneity studies.
8012359 1994
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperthermia susceptibility type 1
0.700
GeneticVariation
UNIPROT
Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia.
8220423 1993
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperthermia susceptibility type 1
0.700
GeneticVariation
UNIPROT
Polymorphisms and deduced amino acid substitutions in the coding sequence of the ryanodine receptor (RYR1) gene in individuals with malignant hyperthermia.
1354642 1992
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperthermia susceptibility type 1
0.700
GeneticVariation
UNIPROT
A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia.
1774074 1991