Screening of calpain-3 autolytic activity in LGMD muscle: a functional map of CAPN3 gene mutations.
Fanin, M
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
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