Duchenne phenotype with in-frame deletion removing major portion of dystrophin rod: Threshold effect for deletion size?

Muscle and Nerve

Volumn 19, Issue 9, 1996, Pages 1154-1160

  Fanin, Marina ^a   Freda, Maria Pia ^a   Vitiello, Libero ^a   Danieli, Gian Antonio ^a   Pegoraro, Elena ^a   Angelini, Corrado ^a  

^a UNIVERSITY OF PADOVA   (Italy)

Author keywords

Duchenne dystrophy; dystroglycan complex; dystrophin; in frame deletion

Indexed keywords

DYSTROPHIN;

ARTICLE; BECKER MUSCULAR DYSTROPHY; CARBOXY TERMINAL SEQUENCE; CASE REPORT; DNA DETERMINATION; DUCHENNE MUSCULAR DYSTROPHY; ELECTROMYOGRAM; EXON; FRAMESHIFT MUTATION; HUMAN; IMMUNOBLOTTING; IMMUNOHISTOCHEMISTRY; MALE; MUSCLE CELL; OPEN READING FRAME; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD;

EID: 0029810520     PISSN: 0148639X     EISSN: None     Source Type: Journal    
DOI: 10.1002/mus.880190902     Document Type: Article

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