HEMOPHILIA-A - DATABASE OF NUCLEOTIDE SUBSTITUTIONS, DELETIONS, INSERTIONS AND REARRANGEMENTS OF THE FACTOR-VIII GENE, 2ND EDITION

Authors
TUDDENHAM EGD SCHWAAB R SEEHAFER J MILLAR DS GITSCHIER J HIGUCHI M BIDICHANDANI S CONNOR JM HOYER LW YOSHIOKA A PEAKE IR OLEK K KAZAZIAN HH LAVERGNE JM GIANNELLI F ANTONARAKIS SE COOPER DN
Citation
Egd. Tuddenham et al., HEMOPHILIA-A - DATABASE OF NUCLEOTIDE SUBSTITUTIONS, DELETIONS, INSERTIONS AND REARRANGEMENTS OF THE FACTOR-VIII GENE, 2ND EDITION, Nucleic acids research, 22(17), 1994, pp. 3511-3533
Citations number
106
Categorie Soggetti
Biology
Journal title
Nucleic acids research → ACNP
ISSN journal
03051048
Volume
22
Issue
17
Year of publication
1994
Pages
3511 - 3533
Database
ISI
SICI code
0305-1048(1994)22:17<3511:H-DONS>2.0.ZU;2-9
Abstract
A large number of different mutations in the factor VIII (F8) gene hav e been identified as a cause of haemophilia A. This compilation lists known single base-pair substitutions, deletions and insertions in the F8 gene and reviews the status of the inversional events which account for a substantial proportion of mutations causing severe haemophilia A.