Isolation of an active human transposable element

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Science  20 Dec 1991:
Vol. 254, Issue 5039, pp. 1805-1808
DOI: 10.1126/science.1662412


Two de novo insertions of truncated L1 elements into the factor VIII gene on the X chromosome have been identified that produced hemophilia A. A full-length L1 element that is the likely progenitor of one of these insertions was isolated by its sequence identity to the factor VIII insertion. This L1 element contains two open-reading frames and is one of at least four alleles of a locus on chromosome 22 that has been occupied by an L1 element for at least 6 million years.

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