A novel dysferlin mutant pseudoexon bypassed with antisense oligonucleotides

Annals of Clinical and Translational Neurology

Volumn 1, Issue 9, 2014, Pages 703-720

  Dominov, Janice A ^a   Uyan, Özgün ^a   Sapp, Peter C ^a   McKenna Yasek, Diane ^a   Nallamilli, Babi R R ^b   Hegde, Madhuri ^b   Brown, Robert H ^a  

^a UNIVERSITY OF MASSACHUSETTS MEDICAL SCHOOL   (United States)

^b EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AFIMOXIFENE; ANTISENSE OLIGONUCLEOTIDE; CREATINE KINASE; DYSFERLIN; MYOD PROTEIN; MYOSIN HEAVY CHAIN;

ADOLESCENT; ADULT; ALLELE; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; EXON; FEMALE; GENE MUTATION; GENE STRUCTURE; GENETIC VARIABILITY; HUMAN; HUMAN CELL; IMMUNOCYTOCHEMISTRY; INHERITANCE; MALE; MUSCLE BIOPSY; PEDIGREE ANALYSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION ASSAY; PSEUDOEXON; RADIOIMMUNOPRECIPITATION; REAL TIME POLYMERASE CHAIN REACTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; SKIN BIOPSY; WESTERN BLOTTING; YOUNG ADULT;

EID: 84977851993     PISSN: None     EISSN: 23289503     Source Type: Journal    
DOI: 10.1002/acn3.96     Document Type: Article

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