A dystrophin missense mutation showing persistence of dystrophin and dystrophin-associated proteins yet a severe phenotype. [electronic resource]
Producer: 19990108Description: 971-6 p. digitalISSN:- 0364-5134
- Amino Acid Sequence -- genetics
- Base Sequence -- genetics
- Child
- Child, Preschool
- Cytoskeletal Proteins -- metabolism
- DNA, Complementary -- genetics
- Dystroglycans
- Dystrophin -- genetics
- Genetic Linkage -- genetics
- Humans
- Laminin -- metabolism
- Male
- Membrane Glycoproteins -- metabolism
- Molecular Sequence Data
- Muscles -- metabolism
- Mutation, Missense -- genetics
- Pedigree
- Phenotype
- Sarcoglycans
- X Chromosome -- genetics
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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