Screening of calpain-3 autolytic activity in LGMD muscle: a functional map of CAPN3 gene mutations. [electronic resource]
- Journal of medical genetics Jan 2007
- 38-43 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1468-6244
10.1136/jmg.2006.044859 doi
Age of Onset Amino Acid Substitution Base Sequence Biopsy Calpain--chemistry Exons Humans Models, Molecular Muscle Proteins--chemistry Muscle, Skeletal--enzymology Muscular Dystrophies, Limb-Girdle--diagnosis Mutation, Missense Polymorphism, Single-Stranded Conformational Protein Structure, Tertiary Retrospective Studies