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rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
5039
|
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pubmed:dateCreated |
1992-2-12
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|
pubmed:abstractText |
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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pubmed:language |
eng
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pubmed:journal |
|
|
pubmed:citationSubset |
IM
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|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
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pubmed:month |
Dec
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pubmed:issn |
0036-8075
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|
pubmed:author |
|
|
pubmed:issnType |
Print
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|
pubmed:day |
20
|
|
pubmed:volume |
254
|
|
pubmed:owner |
NLM
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|
pubmed:authorsComplete |
Y
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pubmed:pagination |
1805-8
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|
pubmed:dateRevised |
2007-3-19
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pubmed:meshHeading |
pubmed-meshheading:1662412-Alleles,
pubmed-meshheading:1662412-Base Sequence,
pubmed-meshheading:1662412-Chromosomes, Human, Pair 22,
pubmed-meshheading:1662412-DNA Transposable Elements,
pubmed-meshheading:1662412-Factor VIII,
pubmed-meshheading:1662412-Genome, Human,
pubmed-meshheading:1662412-Hemophilia A,
pubmed-meshheading:1662412-Humans,
pubmed-meshheading:1662412-Molecular Sequence Data,
pubmed-meshheading:1662412-Open Reading Frames,
pubmed-meshheading:1662412-Restriction Mapping,
pubmed-meshheading:1662412-Sequence Homology, Nucleic Acid,
pubmed-meshheading:1662412-X Chromosome
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|
pubmed:year |
1991
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|
pubmed:articleTitle |
Isolation of an active human transposable element.
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|
pubmed:affiliation |
Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205.
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|
pubmed:publicationType |
Journal Article,
Comparative Study,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
|
