Article
Genetic correction of splice site mutation in purified and enriched myoblasts isolated from mdx5cv mice.
BMC molecular biology - 23 Feb 2009
Maguire Katie, Suzuki Takayuki, DiMatteo Darlise, Parekh-Olmedo Hetal, Kmiec Eric
Abstract excerpt
BACKGROUND: Duchenne Muscular Dystrophy (DMD) is an X-linked genetic disorder that results in the production of a dysfunctional form of the protein, dystrophin. The mdx5cv mouse is a model of DMD in which a point mutation in exon 10 of the dystrophin gene creates an artificial splice site. As a result, a 53 base pair deletion of exon 10 occurs with a coincident creation of a frameshift and a premature stop codon....
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