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

Germanos-Haddad, Myrna; De Moerloose, Philippe; Boehlen, Françoise; Peyvandi, Flora; Neerman Arbez, Marguerite

Scientific article

English

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

ContributorsGermanos-Haddad, Myrna; De Moerloose, Philippe; Boehlen, Françoise; Peyvandi, Flora; Neerman Arbez, Marguerite

Published inHaematologica, vol. 90, no. 3, p. 418-419

Publication date2005

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 Domain
Factor XI/genetics
Factor XI Deficiency/ genetics
Family Health
Female
Homozygote
Humans
Lebanon
Middle Aged
Mutation, Missense
Pedigree

Affiliation entities

Faculté de médecine / Section de médecine clinique / Département de médecine

Citation (ISO format)

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.

Article

Identifiers

PID : unige:8754
PMID : 15749683

Additional URL for this publicationhttp://www.haematologica.org/cgi/reprint/90/3/418.pdf

Journal ISSN0390-6078

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

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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