en
Scientific article
English

Homozygosity for a Thr575Met missense mutation in the catalytic domain associated with factor XI deficiency

Published inHaematologica, vol. 90, no. 3, p. 418-419
Publication date2005
Abstract

In this study we investigated an asymptomatic 55-year-old Lebanese woman with factor XI deficiency. The F11 gene was analyzed and a cross reacting material positive (CRM+) variant, Thr575Met, was identified in homozygosity in the proband, and in heterozygosity in four of her siblings.

Keywords
  • Catalytic Domain
  • Factor XI/genetics
  • Factor XI Deficiency/ genetics
  • Family Health
  • Female
  • Homozygote
  • Humans
  • Lebanon
  • Middle Aged
  • Mutation, Missense
  • Pedigree
Citation (ISO format)
GERMANOS-HADDAD, Myrna et al. Homozygosity for a Thr575Met missense mutation in the catalytic domain associated with factor XI deficiency. In: Haematologica, 2005, vol. 90, n° 3, p. 418–419.
Main files (1)
Article
accessLevelRestricted
Identifiers
ISSN of the journal0390-6078
424views
0downloads

Technical informations

Creation07/12/2010 11:57:55 AM
First validation07/12/2010 11:57:55 AM
Update time03/14/2023 3:50:58 PM
Status update03/14/2023 3:50:58 PM
Last indexation02/12/2024 6:51:17 PM
All rights reserved by Archive ouverte UNIGE and the University of GenevaunigeBlack