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Intron 1 factor VIII gene inversion in a population of Italian hemophilia A patients

Authors :
Tauro Maria Neri
Annarita Tagliaferri
C. Pattacini
Cesare Manotti
Federica Riccardi
Source :
Blood. 100:3432-3432
Publication Year :
2002
Publisher :
American Society of Hematology, 2002.

Abstract

Bagnall and collegues[1][1] report a technique to investigate an inversion that disrupts the factor VIII ( F8 ) gene and that represents a frequent cause of severe hemophilia A. This large genomic rearrangement, identified for the first time by Brinke et al[2][2] in 2 haemophilic monozygotic twins

Details

ISSN :
15280020 and 00064971
Volume :
100
Database :
OpenAIRE
Journal :
Blood
Accession number :
edsair.doi...........200f9a8a654a370c892b58b3747d5485
Full Text :
https://doi.org/10.1182/blood-2002-07-2185