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.
Germanos-Haddad
Myrna
M
de Moerloose
Philippe
P
Boehlen
Françoise
F
Peyvandi
Flora
F
Neerman-Arbez
Marguerite
M
D020134:Catalytic Domain; D005172:Factor XI / Q000235:genetics; D005173:Factor XI Deficiency / Q000235:genetics*; D005192:Family Health; D005260:Female; D006720:Homozygote; D006801:Humans; D007861:Lebanon; D008875:Middle Aged; D020125:Mutation, Missense; D010375:Pedigree
D005172:Factor XI