Article
Precise mapping of 17 deletion breakpoints within the central hotspot deletion region (introns 50 and 51) of the DMD gene.
Journal of human genetics - 1 Dec 2017
Esposito Gabriella, Tremolaterra Maria Roberta, Marsocci Evelina, Tandurella Igor Cm, Fioretti Tiziana, Savarese Maria, Carsana Antonella
Abstract excerpt
Exon deletions in the human DMD gene, which encodes the dystrophin protein, are the molecular defect in 50-70% of cases of Duchenne/Becker muscular dystrophies. Deletions are preferentially clustered in the 5' (exons 2-20) and the central (exons 45-53) region of DMD, likely because local DNA structure predisposes to specific breakage or recombination events. Notably, innovative therapeutic strategies may rescue...
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