Journal article

In vivo and in vitro correction of the mdx dystrophin gene nonsense mutation by short-fragment homologous replacement

R Kapsa, A Quigley, GS Lynch, K Steeper, AJ Kornberg, P Gregorevic, L Austin, E Byrne

HUMAN GENE THERAPY | MARY ANN LIEBERT INC PUBL | Published : 2001

Abstract

Targeted genetic correction of mutations in cells is a potential strategy for treating human conditions that involve nonsense, missense, and transcriptional splice junction mutations. One method of targeted gene repair, single-stranded short-fragment homologous replacement (ssSFHR), has been successful in repairing the common deltaF508 3-bp microdeletion at the cystic fibrosis transmembrane conductance regulator (CFTR) locus in 1% of airway epithelial cells in culture. This study investigates in vitro and in vivo application of a double-stranded method variant of SFHR gene repair to the mdx mouse model of Duchenne muscular dystrophy (DMD). A 603-bp wild-type PCR product was used to repair th..

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