Pure intronic rearrangements leading to aberrant pseudoexon inclusion in dystrophinopathy: A new class of mutations?

Human Mutation

Volumn 32, Issue 4, 2011, Pages 467-475

  Khelifi, Mouna Messaoud ^a,b   Ishmukhametova, Aliya ^a,b   Van Kien, Philippe Khau ^c   Thorel, Delphine ^c   Méchin, Déborah ^c   Perelman, Serge ^d   Pouget, Jean ^e   Claustres, Mireille ^a,b,c   Tuffery Giraud, Sylvie ^a,b  

^a UNIV MONTPELLIER   (France)

^b INSERM   (France)

^c HÔPITAL ARNAUD DE VILLENEUVE   (France)

^d Fondation Lenval Hopital pour Enfants   (France)

^e TIMONE HOSPITAL   (France)

Author keywords

Array CGH; DMD; Double deletion mutation; Intronic rearrangement; Pseudoexon; RNA analysis

Indexed keywords

CREATINE KINASE; DYSTROPHIN;

ARTICLE; CHROMOSOME INVERSION; COMPARATIVE GENOMIC HYBRIDIZATION; CREATINE KINASE BLOOD LEVEL; DMD GENE; DYSTROPHINOPATHY; EXON; FAMILY HISTORY; GENE; GENE DELETION; GENE INSERTION; GENE LOCATION; GENE MUTATION; GENE REARRANGEMENT; GENE SEQUENCE; HUMAN; INTRON; MOLECULAR MECHANICS; MUSCLE BIOPSY; MYALGIA; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PSEUDOEXON; RNA STRUCTURE; WILD TYPE;

ADULT; CHILD, PRESCHOOL; DYSTROPHIN; EXONS; GENE REARRANGEMENT; HUMANS; INTRONS; MALE; MUSCULAR DYSTROPHY, DUCHENNE; MUTATION; RNA SPLICING;

EID: 79952769278     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21471     Document Type: Article

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