Article
Recurrence of a Phe31Ser mutation in the Gla domain of blood coagulation factor X, in unrelated Algerian families: a founder effect?
European journal of haematology - 1 May 2007
Akhavan Sepideh, Chafa Ouerdia, Obame Fatou Nsoure, Torchet Marie-Françoise, Reghis Abderrezak, Fischer Anne-Marie, Tapon-Bretaudière Jacqueline
Abstract excerpt
The presence of gene lesions in blood coagulation factor X (FX) was investigated in eight FX-deficient patients with severe bleeding symptoms, originating from five unrelated Algerian families (FX coagulant activity <1%, FX antigen ranging from 2% to 16%). A missense mutation (p.Phe31Ser) in the Gla domain was found in homozygous form for all patients but one, who is a compound heterozygote for the Phe31Ser...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
