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- W2593669123 abstract "Duchenne muscular dystrophy (DMD), a fatal X-linked recessive disorder, is caused by mutations in the dystrophin gene. Identifying the exact genomic boundaries of the causative mutations in the dystrophin gene is a prerequisite to a potential customized antisense oligonucleotide (AO) therapy for these patients. Induced exon skipping using AOs to redirect processing of the pre-mRNA aims to restore the reading frame to encode a shorter, but functional protein. This approach aims to mimic the type of mutations found in Becker muscular dystrophy, a milder allelic disorder caused by in-frame mutations in the dystrophin gene. We present a high-resolution mutation screening method that will detect all major genomic deletions across all 79 exons of the dystrophin gene. Multiplex PCR encompassing all exons will be utilized as the first line of screening to allow the detection of regions showing duplication and deletion, comprising approximately 70% of disease-causing mutations in DMD. The regions flanking the mutation will be sequenced to detect any polymorphic sequences which could hinder AO efficiency. For the remaining patients with single nucleotide changes a full sequence analysis would be carried out on cDNA products representing the coding region. Fine mutation mapping will facilitate genetic counseling for other at-risk family members." @default.
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- W2593669123 date "2005-01-01" @default.
- W2593669123 modified "2023-09-26" @default.
- W2593669123 title "A comprehensive mutation screening strategy of the dystrophin gene of DMD patients preceding antisense oligoribonucleotide clinical trials" @default.
- W2593669123 hasPublicationYear "2005" @default.
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