| | |  | | | | Record from Web of Science® | | | | | | |
| ISOLATION OF AN ACTIVE HUMAN TRANSPOSABLE ELEMENT |
|
|
| Author(s): DOMBROSKI BA, MATHIAS SL, NANTHAKUMAR E, SCOTT AF, KAZAZIAN HH |
| Source: SCIENCE Volume: 254 Issue: 5039 Pages: 1805-1808 Published: DEC 20 1991 |
| Times Cited: 252 References: 30 |
| Abstract: 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 VII 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. |
| Document Type: Article |
| Language: English |
| Reprint Address: KAZAZIAN, HH (reprint author), JOHNS HOPKINS UNIV, SCH MED, DEPT PEDIAT, CTR MED GENET, BALTIMORE, MD 21205 USA |
Addresses:
1. JOHNS HOPKINS UNIV, SCH MED, DEPT PEDIAT, CTR MED GENET, BALTIMORE, MD 21205 USA
2. JOHNS HOPKINS UNIV, SCH MED, DEPT MED, CTR MED GENET, BALTIMORE, MD 21205 USA |
| Publisher: AMER ASSOC ADVANCEMENT SCIENCE, 1200 NEW YORK AVE, NW, WASHINGTON, DC 20005 |
| Subject Category: Multidisciplinary Sciences |
| IDS Number: GW316 |
| ISSN: 0036-8075 |
|
| | | | | | | | | Record from Web of Science® | | | | | | | | | |