Haematologica
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Haematologica, Vol 90, Issue 3, 418-419
Copyright © 2005 by Ferrata Storti Foundation

Case Reports

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

M Germanos-Haddad, P de Moerloose, F Boehlen, F Peyvandi, and M Neerman-Arbez

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.




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Copyright © 2005 by the Ferrata Storti Foundation.