en
Scientific article
English

Molecular basis of fibrinogen deficiency

Published inPathophysiology of haemostasis and thrombosis, vol. 35, no. 1-2, p. 187-198
Publication date2006
Abstract

Inherited fibrinogen disorders can be classified into qualitative and quantitative anomalies: dysfibrinogenemia is characterised by normal circulating levels of fibrinogen with abnormal function; hypofibrinogenemia and afibrinogenemia are characterised by reduced or absent fibrinogen in circulation respectively,while hypodysfibrinogenemia is defined by reduced fibrinogen with reduced function. All are due to mutations in one of the three fibrinogen genes, FGA, FGB and FGG, which are clustered in a region of 50 kb on the long arm of human chromosome 4. The aim of this review is to illustrate the diverse molecular mechanisms by which mutations lead to fibrinogen deficiency, in particular in congenital afibrinogenemia.

Keywords
  • Afibrinogenemia/congenital/etiology/ genetics
  • Fibrinogen/biosynthesis/genetics
  • Humans
  • Multigene Family
  • Mutation
  • RNA Splicing
  • RNA Stability
Citation (ISO format)
NEERMAN ARBEZ, Marguerite. Molecular basis of fibrinogen deficiency. In: Pathophysiology of haemostasis and thrombosis, 2006, vol. 35, n° 1-2, p. 187–198. doi: 10.1159/000093566
Main files (1)
Article
accessLevelRestricted
Identifiers
ISSN of the journal1424-8832
425views
0downloads

Technical informations

Creation07/12/2010 11:59:15 AM
First validation07/12/2010 11:59:15 AM
Update time03/14/2023 3:52:11 PM
Status update03/14/2023 3:52:11 PM
Last indexation05/02/2024 11:39:48 AM
All rights reserved by Archive ouverte UNIGE and the University of GenevaunigeBlack