DAG1 mutations associated with asymptomatic hyperCKemia and hypoglycosylation of α-dystroglycan. [electronic resource]
Producer: 20150504Description: 273-9 p. digitalISSN:- 1526-632X
- Adult
- Cell Line, Transformed
- Cohort Studies
- Creatine Kinase -- metabolism
- Dystroglycans -- genetics
- Dystrophin -- metabolism
- Female
- Genetic Association Studies
- Glycosylation
- Humans
- Laminin -- metabolism
- Male
- Metabolic Diseases -- complications
- Middle Aged
- Muscle, Skeletal -- pathology
- Muscular Dystrophies -- complications
- Mutation -- genetics
- Phenotype
- Protein Transport -- genetics
- Transfection
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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