Identification of heterozygous and homozygous individuals with the novel RYR1 mutation Cys35Arg in a large kindred. [electronic resource]
Producer: 19970404Description: 620-6 p. digitalISSN:- 0003-3022
- Adolescent
- Adult
- Alleles
- Amino Acid Sequence
- Animals
- Arginine -- genetics
- Calcium Channels -- genetics
- Child
- Consanguinity
- Creatine Kinase -- blood
- Cysteine -- genetics
- DNA, Complementary -- genetics
- Disease Susceptibility
- Female
- Genetic Linkage
- Heterozygote
- Homozygote
- Humans
- Male
- Malignant Hyperthermia -- genetics
- Molecular Sequence Data
- Muscle Proteins -- genetics
- Mutation
- Pedigree
- Ryanodine Receptor Calcium Release Channel
- Sequence Homology, Amino Acid
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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