Large in-frame deletions of the rod-shaped domain of the dystrophin gene resulting in severe phenotype

Israel Medical Association Journal

Volumn 5, Issue 2, 2003, Pages 94-97

  Nevo, Yoram ^a,c   Muntoni, Francesco ^b,d   Sewry, Caroline ^b,d   Legum, Cyril ^a,c   Kutai, Miriam ^a,c   Harel, Shaul ^a,c   Dubowitz, Victor ^b,d  

^a TEL AVIV SOURASKY MEDICAL CENTER   (Israel)

^b HAMMERSMITH HOSPITAL   (United Kingdom)

^c TEL AVIV UNIVERSITY   (Israel)

^d IMPERIAL COLLEGE SCHOOL OF MEDICINE   (United Kingdom)

Author keywords

Duchenne muscular dystrophy; Dystrophin gene; In frame deletion

Indexed keywords

BIOCATALYSTS; BIOPSY; MUSCLE; PATIENT MONITORING;

MUSCULAR DYSTROPHY;

GENETIC ENGINEERING;

DNA; DYSTROPHIN; MONOCLONAL ANTIBODY; PREDNISONE;

ARTICLE; BECKER MUSCULAR DYSTROPHY; CASE REPORT; DISEASE COURSE; DISEASE SEVERITY; DUCHENNE MUSCULAR DYSTROPHY; EXON; GENE DELETION; HISTOCHEMISTRY; HISTOLOGY; HUMAN; INFANT; MALE; MUSCLE BIOPSY; MUSCLE WEAKNESS; NEEDLE BIOPSY; PHENOTYPE; POLYMERASE CHAIN REACTION; PREDICTION; PROTEIN DOMAIN; QUADRICEPS FEMORIS MUSCLE;

DYSTROPHIN; HUMANS; INFANT; MALE; MUSCULAR DYSTROPHIES; PHENOTYPE; POLYMERASE CHAIN REACTION;

EID: 0037302285     PISSN: 15651088     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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