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Gene deletion in an Italian haemophilia B subject

Authors :
M. Positano
Raffaella Barbieri
Giovanna Marchetti
Francesco Conconi
L. del Senno
Roberto Gambari
F Panicucci
S. Pitruzzello
Francesco Bernardi
D Buzzoni
Source :
Journal of medical genetics. 22(4)
Publication Year :
1985

Abstract

DNA from 20 Italian haemophilia B patients was analysed by the Southern blotting technique and hybridisation to a factor IX cDNA probe. A large deletion of factor IX gene was detected in one patient with antibodies to the infused factor; the EcoRI pattern of the other 19 subjects examined was normal.

Details

ISSN :
00222593
Volume :
22
Issue :
4
Database :
OpenAIRE
Journal :
Journal of medical genetics
Accession number :
edsair.doi.dedup.....0436adc40235de18bf9b7eb662da5f4a