Identification of splicing defects caused by mutations in the dysferlin gene

Human Mutation

Volumn 35, Issue 12, 2014, Pages 1532-1541

  Kergourlay, Virginie ^a,b   Raï, Ghadi ^a,b   Blandin, Gaëlle ^a,b   Salgado, David ^a,b   Béroud, Christophe ^a,b,c   Lévy, Nicolas ^a,b,c   Krahn, Martin ^a,b,c   Bartoli, Marc ^a,b,c  

^a AIX MARSEILLE UNIVERSITY   (France)

^b INSERM   (France)

^c TIMONE HOSPITAL   (France)

Author keywords

Diagnostics tests; DYSF; Dysferlin; Neuromuscular disease; Splicing

Indexed keywords

DYSF PROTEIN, HUMAN; MEMBRANE PROTEIN; MUSCLE PROTEIN;

GENETICS; HUMAN; MUTATION; RNA SPLICING;

HUMANS; MEMBRANE PROTEINS; MUSCLE PROTEINS; MUTATION; RNA SPLICING;

EID: 84911382071     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22710     Document Type: Article

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