Homozygosity for a Thr575Met missense mutation in the catalytic domain associated with factor XI deficiency
Journal article published in 2005 by
Myrna Germanos-Haddad,
Philippe de Moerloose,
Françoise Boehlen,
Flora Peyvandi,
Marguerite Neerman-Arbez 
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.