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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Article Information
Vol. 90 No. 3 (2005): March, 2005 : Case Reports
Published
2005-01-01
Published By
Ferrata Storti Foundation, Pavia, Italy
Print ISSN
0390-6078
Online ISSN
1592-8721
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How to Cite
1.
M Germanos-Haddad, P de Moerloose, F Boehlen, F Peyvandi, M Neerman-Arbez. Homozygosity for a Thr575Met missense mutation in the catalytic domain associated with factor XI deficiency. Haematologica 2005;90(3):418-419; https://doi.org/10.3324/%x.
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