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Title

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

Authors
Germanos-Haddad, Myrna
Peyvandi, Flora
Published in Haematologica. 2005, vol. 90, no. 3, p. 418-419
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.
Keywords Catalytic DomainFactor XI/geneticsFactor XI Deficiency/ geneticsFamily HealthFemaleHomozygoteHumansLebanonMiddle AgedMutation, MissensePedigree
Identifiers
PMID: 15749683
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Other version: http://www.haematologica.org/cgi/reprint/90/3/418.pdf
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GERMANOS-HADDAD, Myrna et al. Homozygosity for a Thr575Met missense mutation in the catalytic domain associated with factor XI deficiency. In: Haematologica, 2005, vol. 90, n° 3, p. 418-419. https://archive-ouverte.unige.ch/unige:8754

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Deposited on : 2010-07-12

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