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Medicine and Health Sciences Commons

Open Access. Powered by Scholars. Published by Universities.®

1999

Medical Sciences

Edith Cowan University

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Molecular Studies Of Splice Sites In The Canine Dystrophin Gene, Hayley Durling Jan 1999

Molecular Studies Of Splice Sites In The Canine Dystrophin Gene, Hayley Durling

Theses : Honours

The development of an effective therapy for Duchenne Muscular Dystrophy (DMD) is one of the primary goals of all DMD/Becker Muscular Dystrophy (BMD) research. Golden Retriever Muscular Dystrophy (GRMD), an animal model of DMD is a fatal degenerative myopathy. Unlike the mdx model, the GRMD dog more accurately reflects the phenotype shown by human DMG patients, making the model better suited for the investigation and assessment of potential therapeutic approaches. The GRMD mutation, a base change from A to G in the 3' splice acceptor site of intron 6, results in exon 7 skipping which disrupts the translational reading frame. …