Dissecting the structure and mechanism of a complex duplication-triplication rearrangement in the DMD gene

Human Mutation

Volumn 34, Issue 8, 2013, Pages 1080-1084

  Ishmukhametova, Aliya ^a,b   Chen, Jian Min ^c   Bernard, Rafaëlle ^d   de Massy, Bernard ^e   Baudat, Frédéric ^e   Boyer, Amandine ^d   Méchin, Déborah ^b   Thorel, Delphine ^b   Chabrol, Brigitte ^d   Vincent, Marie Claire ^b   Khau Van Kien, Philippe ^b,g   Claustres, Mireille ^a,b,f   Tuffery Giraud, Sylvie ^a,f  

^a UNIV MONTPELLIER   (France)

^b HÔPITAL ARNAUD DE VILLENEUVE   (France)

^c ETABLISSEMENT FRANÇAIS DU SANG   (France)

^d TIMONE HOSPITAL   (France)

^e INSTITUTE OF HUMAN GENETICS   (France)

^f INSERM   (France)

^g NÎMES UNIVERSITY HOSPITAL   (France)

Author keywords

Complex rearrangements; DMD; Inverted repeats; PRDM9

Indexed keywords

ARTICLE; BINDING SITE; DUPLICATION TRIPLICATION REARRANGEMENT; EXON; GENE; GENE DUPLICATION; GENE REARRANGEMENT; GENETIC RECOMBINATION; GENOMICS; INVERTED REPEAT; MEIOSIS; PREDICTION; PRIORITY JOURNAL; TANDEM REPEAT; X CHROMOSOME; Y CHROMOSOME;

COMPLEX REARRANGEMENTS; DMD; INVERTED REPEATS; PRDM9;

ADOLESCENT; BASE SEQUENCE; DNA BREAKS; DNA COPY NUMBER VARIATIONS; DYSTROPHIN; EXONS; GENE DUPLICATION; GENETIC VARIATION; HISTONE-LYSINE N-METHYLTRANSFERASE; HUMANS; INVERTED REPEAT SEQUENCES; MALE; MODELS, GENETIC; MOLECULAR SEQUENCE DATA; MUSCULAR DYSTROPHY, DUCHENNE; SEQUENCE INVERSION;

EID: 84880510719     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22353     Document Type: Article

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