Nonsense mutation-associated Becker muscular dystrophy: Interplay between exon definition and splicing regulatory elements within the DMD gene

Human Mutation

Volumn 32, Issue 3, 2011, Pages 299-308

  Flanigan, Kevin M ^a   Dunn, Diane M ^b   Von Niederhausern, Andrew ^b   Soltanzadeh, Payam ^b   Howard, Michael T ^b   Sampson, Jacinda B ^b   Swoboda, Kathryn J ^b   Bromberg, Mark B ^b   Mendell, Jerry R ^a   Taylor, Laura E ^a   Anderson, Christine B ^b   Pestronk, Alan ^c,d   Florence, Julaine M ^c   Connolly, Anne M ^c   Mathews, Katherine D ^e   Wong, Brenda ^f   Finkel, Richard S ^g   Bonnemann, Carsten G ^g   Day, John W ^h   McDonald, Craig ⁱ   Weiss, Robert B ^b   more..

^a NATIONWIDE CHILDREN S HOSPITAL   (United States)

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

^c WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d WASHINGTON UNIVERSITY   (United States)

^e UNIVERSITY OF IOWA   (United States)

^f CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^g CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^h UNIVERSITY OF MINNESOTA   (United States)

ⁱ UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Becker muscular dystrophy; DMD; Dystrophin; Exon skipping; Nonsense mutations; Splicing motifs

Indexed keywords

DYSTROPHIN;

ARTICLE; BECKER MUSCULAR DYSTROPHY; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE SEVERITY; DUCHENNE MUSCULAR DYSTROPHY; EXON SKIPPING; MOUSE; NONHUMAN; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL;

CODON, NONSENSE; DYSTROPHIN; EXONS; FEMALE; HUMANS; MALE; MUSCULAR DYSTROPHY, DUCHENNE; PHENOTYPE; RNA SPLICING;

EID: 79951782036     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21426     Document Type: Article

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