Is there a 'Basque' profile regarding autosomal recessive dificiencies of coagulation factors ? - HAL-SHS - Sciences de l'Homme et de la Société Accéder directement au contenu
Article Dans Une Revue Haemophilia Année : 2004

Is there a 'Basque' profile regarding autosomal recessive dificiencies of coagulation factors ?

Résumé

When excluding haemophilia and von Willebrand disease, coagulation factors deficiencies constitute rare autosomal recessive disorders (<1 in 500 000) of less precisely defined epidemiology. We have reported herein the distribution of these entities in the French Basque Country, a genetic isolate of very old individualization with peculiar biological specificities. The prevalence of these disorders was markedly high, especially, as already shown, factor XI deficiency. This unusual profile needs to be discussed in the view of population genetics.

Dates et versions

halshs-00008130 , version 1 (24-01-2006)

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Frédéric Bauduer, Anna Degioanni, Louis Ducout, Olivier Dutour. Is there a 'Basque' profile regarding autosomal recessive dificiencies of coagulation factors ?. Haemophilia, 2004, 10 (3), pp.276-279. ⟨10.1111/j.1365-2516.2004.00892.x⟩. ⟨halshs-00008130⟩

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