Article
Dissecting the structure and mechanism of a complex duplication-triplication rearrangement in the DMD gene.
Human mutation - 1 Aug 2013
Ishmukhametova Aliya, Chen Jian-Min, Bernard Rafaëlle, de Massy Bernard, Baudat Frédéric, Boyer Amandine, Méchin Déborah, Thorel Delphine, Chabrol Brigitte, Vincent Marie-Claire, Khau Van Kien Philippe, Claustres Mireille, Tuffery-Giraud Sylvie
Abstract excerpt
Pathogenic complex genomic rearrangements are being increasingly characterized at the nucleotide level, providing unprecedented opportunities to evaluate the complexities of mutational mechanisms. Here, we report the molecular characterization of a complex duplication-triplication rearrangement involving exons 45-60 of the DMD gene. Inverted repeats facilitated this complex rearrangement, which shares common...
Topics
- Adolescent
- Base Sequence
- DNA Breaks
- DNA Copy Number Variations
- Dystrophin
- Exons
- Gene Duplication
- Genetic Variation
- Histone-Lysine N-Methyltransferase
- Humans
- Inverted Repeat Sequences
- Male