Mutations in the delta-sarcoglycan gene are a rare cause of autosomal recessive limb-girdle muscular dystrophy (LGMD2). [electronic resource]
Producer: 20000411Description: 49-58 p. digitalISSN:- 1364-6745
- Chromosomes, Human, Pair 5
- Cytoskeletal Proteins -- chemistry
- DNA Mutational Analysis
- Dystrophin -- genetics
- Fluorescent Antibody Technique
- Follow-Up Studies
- Genes, Recessive
- Humans
- Membrane Glycoproteins -- chemistry
- Microsatellite Repeats
- Muscle, Skeletal -- metabolism
- Muscular Dystrophies -- genetics
- Mutation
- Phenotype
- Polymorphism, Single-Stranded Conformational
- Protein Structure, Secondary
- Reverse Transcriptase Polymerase Chain Reaction
- Sarcoglycans
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, U.S. Gov't, P.H.S.
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