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Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing

17 Oct 2001

Abstract excerpt

BACKGROUND: Currently molecular diagnostic laboratories focus only on the identification of large deletion and duplication mutations (spanning one exon or more) for Duchenne Muscular Dystrophy (DMD) yielding 65% of causative mutations. These mutations are detected by an existing set of multiplexed polymerase chain reaction (PCR) primer pairs. Due to the large size of the dystrophin gene (79 exons), finding point...

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PMID: 11710958
DOI: 10.1186/1471-2156-2-17

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