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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Homozygosity for a Thr575Met missense mutation in the catalytic domain associated with factor XI deficiency
Haematologica
|March 8, 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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