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Allelic Heterogeneity in LINE-1 Retrotransposition Activity

De novo LINE-1 (long interspersed element–1, or L1) retrotransposition events are responsible for ∼1/1,000 disease-causing mutations in humans. Previously, L1.2 was identified as the likely progenitor of a mutagenic insertion in the factor VIII gene in a patient with hemophilia A. It subsequently wa...

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Main Authors: Lutz, Sheila M., Vincent, Bethaney J., Kazazian Jr., Haig H., Batzer, Mark A., Moran, John V.
Formato: Artigo
Idioma:Inglês
Publicado: The American Society of Human Genetics 2003
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC1180405/
https://ncbi.nlm.nih.gov/pubmed/14610717
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