Analysis of spectrum and frequencies of mutations in McArdle disease. Identification of 13 novel mutations. [electronic resource]
Producer: 20071207Description: 797-802 p. digitalISSN:- 0340-5354
- Adolescent
- Adult
- Age of Onset
- Aged
- Child
- Cohort Studies
- DNA Mutational Analysis
- Disease Progression
- Europe
- Female
- Gene Frequency
- Genetic Heterogeneity
- Genetic Predisposition to Disease -- ethnology
- Genetic Testing
- Genotype
- Glycogen Phosphorylase, Muscle Form -- genetics
- Glycogen Storage Disease Type V -- enzymology
- Humans
- Male
- Middle Aged
- Muscle, Skeletal -- enzymology
- Mutation, Missense -- genetics
- Phenotype
- Polymorphism, Genetic
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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