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Science 20 December 1991:
Vol. 254. no. 5039, pp. 1805 - 1808
DOI: 10.1126/science.1662412
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Articles
Science, Vol 254, Issue 5039, 1805-1808
Copyright © 1991 by American Association for the Advancement of Science
Isolation of an active human transposable element
BA Dombroski,
SL Mathias,
E Nanthakumar,
AF Scott,
and
HH Kazazian Jr
Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205.
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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