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- W2044910624 abstract "We report an unusual and complex dystrophin gene re-arrangement that causes Duchenne muscular dystrophy, and an antisense oligonucleotide (AO) exon skipping strategy that restores the reading frame. All dystrophin exons were present, as determined by MLPA and multiplex PCR studies, while RNA analysis indicated an anomaly involving exons 49 and 50. An inversion of 28kb was identified that lead to the omission of these exons from the mature gene transcript. In addition, multiple mRNAs arising from the variable inclusion of at least six pseudo-exons were identified." @default.
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- W2044910624 date "2008-10-01" @default.
- W2044910624 modified "2023-09-27" @default.
- W2044910624 title "T.P.2.03 Characterisation of a complex dystrophin mutation: Assume nothing when designing exon skipping strategies" @default.
- W2044910624 doi "https://doi.org/10.1016/j.nmd.2008.06.115" @default.
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