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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.

N Narita, … , H Nakamura, M Matsuo

N Narita, … , H Nakamura, M Matsuo

Published May 1, 1993
Citation Information: J Clin Invest. 1993;91(5):1862-1867. https://doi.org/10.1172/JCI116402.

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A new retrotransposable human L1 element from the LRE2 locus on chromosome 1q produces a chimaeric insertion SE Holmes, BA Dombroski, CM Krebs, CD Boehm, HH Kazazian	Nature Genetics	1994
Tracing transposable elements MH Edgell	Nature Genetics	1994
A novel point mutation (G-1 to T) in a 5' splice donor site of intron 13 of the dystrophin gene results in exon skipping and is responsible for Becker muscular dystrophy Y Hagiwara, H Nishio, Y Kitoh, Y Takeshima, N Narita, H Wada, M Yokoyama, H Nakamura, M Matsuo	The American Journal of Human Genetics	1994
I factors inDrosophila melanogaster: Transposition under control I Busseau, MC Chaboissier, A Plisson, A Bucheton	Genetica	1994
The mammalian genome shaping activity of reverse transcriptase P Nouvel	Genetica	1994
"Copy and paste" transposable elements in the human genome HH Kazazian, AF Scott	Journal of Clinical Investigation	1993
Two additional potential retrotransposons isolated from a human L1 subfamily that contains an active retrotransposable element BA Dombroski, AF Scott, HH Kazazian	Proceedings of the National Academy of Sciences	1993
International Review of Cytology RA Miller	International Review of Cytology	1991

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