Article
A simple method to detect the RYR1 mutation G1021A, a cause of malignant hyperthermia susceptibility.
Clinical genetics - 1 May 1995
Alestrøm A, Fagerlund T H, Berg K
Abstract excerpt
To search for the mutations RYR1 G1021A in families where malignant hyperthermia (MH) episodes have occurred, we have used an amplification-created restriction sites (ACRS) technique to detect the mutation. The previously described single-stranded conformation polymorphism (SSCP) technique was la...
Topics
- Base Sequence
- Calcium Channels
- DNA Primers
- Genetic Predisposition to Disease
- Humans
- Malignant Hyperthermia
- Molecular Sequence Data
- Muscle Proteins
- Mutation
- Polymerase Chain Reaction
- Polymorphism, Single-Stranded Conformational
- Ryanodine Receptor Calcium Release Channel