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Article

Novel mutations at a CpG dinucleotide in the ryanodine receptor in malignant hyperthermia.

Human mutation - 1 Jan 1998

Manning B M, Quane K A, Lynch P J, Urwyler A, Tegazzin V, Krivosic-Horber R, Censier K, Comi G, Adnet P, Wolz W, Lunardi J, Muller C R, McCarthy T V

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Amino Acid Substitution
Arginine
CpG Islands
Cysteine
Histidine
Malignant Hyperthermia
Pedigree

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Ryanodine Receptor Calcium Release Channel

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PMID: 9450902
DOI: 10.1002/(SICI)1098-1004(1998)11:1<45::AID-HUMU7>3.0.CO;2-K

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Novel mutations at a CpG dinucleotide in the ryanodine receptor in malignant hyperthermia.PMID 9450902Read ↗

Identification of a novel mutation in the ryanodine receptor gene (RYR1) in patients with malignant hyperthermia.Semantic proximity Read ↗

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

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

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North American malignant hyperthermia population: screening of the ryanodine receptor gene and identification of novel mutations.Semantic proximity Read ↗

Identification and functional characterization of a novel ryanodine receptor mutation causing malignant hyperthermia in North American and South American families.Semantic proximity Read ↗

Functional characterization of RYR1 variants identified in malignant hyperthermia susceptible individuals.Semantic proximity Read ↗

Screening of the entire ryanodine receptor type 1 coding region for sequence variants associated with malignant hyperthermia susceptibility in the north american population.Semantic proximity Read ↗

Ryanodine receptor mutations in malignant hyperthermia and central core disease.Semantic proximity Read ↗

The role of the skeletal muscle ryanodine receptor (RYR1) gene in malignant hyperthermia and central core disease.Semantic proximity Read ↗

Identification of a novel mutation in the ryanodine receptor gene (RYR1) in a malignant hyperthermia Italian family.Semantic proximity Read ↗

[Molecular genetic analysis of the ryanodine receptor gene (RYR1) in Korean malignant hyperthermia families].Semantic proximity Read ↗

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