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
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, M. Neerman-Arbez. - In: HAEMATOLOGICA. - ISSN 0390-6078. - 90:3(2005 Mar), pp. 418-419.
Homozygosity for a Thr575Met missense mutation in the catalytic domain associated with factor XI deficiency
F. PeyvandiPenultimo
;
2005
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
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