title: Two factor XI mutations in a Chinese family with factor XI deficiency.
abstract: We describe a Chinese family with factor XI deficiency, the first reported to date. The proband had factor XI activity of 1% and was heterozygous for two nonsense mutations, an exon-8 C713-->T mutation resulting in Gln263-->Term, and an exon-10 C979-->A mutation resulting in Tyr351-->Term. Two daughters were heterozygous for the Gln263-->Term mutation and two for the Try351-->Term mutation. All showed a reduction of factor XI activity to about 50%. The Gln263-->Term mutation has been described in two Japanese families, and it remains to be determined whether a common founder exists between the three kindreds. The Try351-->Term mutation is novel.
mesh_terms: D044466:Asian People / Q000235:genetics*; D001483:Base Sequence / Q000235:genetics; D001780:Blood Coagulation Tests; D003062:Codon / Q000235:genetics; D005172:Factor XI / Q000235:genetics*; D005173:Factor XI Deficiency / Q000097:blood / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D010375:Pedigree
chemical_list: D003062:Codon; D005172:Factor XI