Mutations that disrupt the carboxyl-terminus of γ-sarcoglycan cause muscular dystrophy

Human Molecular Genetics

Volumn 5, Issue 11, 1996, Pages 1841-1847

  McNally, Elizabeth M ^a,g   Duggan, David ^b   Gorospe, J Rafael ^b   Bönnemann, Carsten G ^a   Fanin, Marina ^c   Pegoraro, Elena ^b   Lidov, Hart G W ^a   Noguchi, Satoru ^d   Ozawa, Eijiro ^d   Finkel, Richard S ^e   Cruse, Robert P ^f   Angelini, Corrado ^c   Kunkel, Louis M ^a   Hoffman, Eric P ^b  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF PADOVA   (Italy)

^d NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^e CHILDREN S HOSPITAL   (United States)

^f Pediatric Neurology   (United States)

^g UNIVERSITY OF CHICAGO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYSTEINE; DYSTROPHIN; EPIDERMAL GROWTH FACTOR; UTROPHIN;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CARBOXY TERMINAL SEQUENCE; CONTROLLED STUDY; DISEASE COURSE; DUCHENNE MUSCULAR DYSTROPHY; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; ITALY; LIMB GIRDLE MUSCULAR DYSTROPHY; MAJOR CLINICAL STUDY; MALE; MUSCLE BIOPSY; MUSCULAR DYSTROPHY; NORTH AFRICA; PHENOTYPE; PRIORITY JOURNAL; TUNISIA; UNITED STATES;

AMINO ACID SEQUENCE; CHILD; CYTOSKELETAL PROTEINS; DYSTROPHIN; FRAMESHIFT MUTATION; GENES, RECESSIVE; HOMOZYGOTE; HUMANS; ITALY; MALE; MEMBRANE GLYCOPROTEINS; MOLECULAR SEQUENCE DATA; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES; MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SARCOGLYCANS; SEQUENCE DELETION; SEQUENCE HOMOLOGY, AMINO ACID; UNITED STATES;

EID: 10344249872     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/5.11.1841     Document Type: Article

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