Article
Isolation of an active human transposable element.
Science (New York, N.Y.) - 20 Dec 1991
Dombroski B A, Mathias S L, Nanthakumar E, Scott A F, Kazazian H H
Abstract excerpt
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...
Topics
- Alleles
- Base Sequence
- Chromosomes, Human, Pair 22
- DNA Transposable Elements
- Factor VIII
- Genome, Human
- Hemophilia A
- Humans
- Molecular Sequence Data
- Open Reading Frames
- Restriction Mapping