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Article

A novel insertion of a rearranged L1 element in exon 44 of the dystrophin gene: further evidence for possible bias in retroposon integration.

Biochemical and biophysical research communications - 18 Aug 2006

Musova Zuzana, Hedvicakova Petra, Mohrmann Marketa, Tesarova Marketa, Krepelova Anna, Zeman Jiri, Sedlacek Zdenek

Abstract excerpt

L1 elements are mammalian retrotransposons contributing to genome evolution and causing rare mutations in human. We describe a de novo insertion of an L1 element into the dystrophin gene resulting in skipping of exon 44 and causing Duchenne muscular dystrophy in a boy. The L1 element was rearranged due to the twin-priming mechanism, but contrary to all described L1 rearrangements the 5' region of the inverted L1...

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Identifiers

PMID: 16808900
DOI: 10.1016/j.bbrc.2006.06.071

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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