Insertion of a 5' truncated L1 element into the 3' end of exon 44 of the dystrophin gene resulted in skipping of the exon during splicing in a case of Duchenne muscular dystrophy.

We report here the second evidence of retrotransposition of L1, which was found inserted into the dystrophin gene of a patient, causing Duchenne muscular dystrophy (DMD). When the PCR was used to amplify a region of the dystrophin gene encompassing exon 44 from genomic DNA of two Japanese brothers w...

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Bibliographic Details
Main Authors: Narita, N, Nishio, H, Kitoh, Y, Ishikawa, Y, Minami, R, Nakamura, H, Matsuo, M
Format: Artigo
Language:Inglês
Published: 1993
Subjects:
Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC288178/
https://ncbi.nlm.nih.gov/pubmed/8387534
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