Screening of calpain-3 autolytic activity in LGMD muscle: A functional map of CAPN3 gene mutations

Journal of Medical Genetics

Volumn 44, Issue 1, 2007, Pages 38-43

  Fanin, M ^a   Nascimbeni, A C ^a   Angelini, C ^a  

^a VENETIAN INSTITUTE OF MOLECULAR MEDICINE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CALPAIN 3;

ADOLESCENT; ADULT; ARTICLE; AUTOLYSIS; ENZYME ACTIVITY; ENZYME ANALYSIS; GENE MAPPING; GENE MUTATION; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUMAN TISSUE; IN VITRO STUDY; LIMB GIRDLE MUSCULAR DYSTROPHY; MAJOR CLINICAL STUDY; MUSCLE BIOPSY; PRIORITY JOURNAL; SCHOOL CHILD;

AGE OF ONSET; AMINO ACID SUBSTITUTION; BASE SEQUENCE; BIOPSY; CALPAIN; EXONS; HUMANS; MODELS, MOLECULAR; MUSCLE PROTEINS; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTATION, MISSENSE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEIN STRUCTURE, TERTIARY; RETROSPECTIVE STUDIES;

EID: 33846439375     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2006.044859     Document Type: Article

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