title: A novel frameshift mutation leading to inherited type I antithrombin deficiency.
abstract: Inherited antithrombin (AT) deficiency is an autosomal dominant thrombotic disorder. We encountered a case of inherited type I AT deficiency and identified the mutation responsible; a novel 5406delA mutation in the SERPINC1 gene appeared to have caused a frameshift with premature termination at amino acid +283. The recombinant AT protein including 5406delA was not detected in cell lysates or culture supernatants. These results will contribute to the creation of an accurate database and define the molecular basis for AT deficiency.
authors.affiliation: aDepartment of Hematology Clinical Immunology and Infectious Diseases bDivision of Laboratory Medicine cDivision of Blood Transfusion and Cell Therapy, Ehime University Graduate School of Medicine, Toon, Ehime, Japan.
authors.forename: Saaya
authors.initials: S
authors.lastname: Mori
authors.forename: Jun
authors.initials: J
authors.lastname: Yamanouchi
authors.forename: Koji
authors.initials: K
authors.lastname: Okamoto
authors.forename: Takaaki
authors.initials: T
authors.lastname: Hato
authors.forename: Masaki
authors.initials: M
authors.lastname: Yasukawa
mesh_terms: D000328:Adult; D020152:Antithrombin III Deficiency / Q000097:blood / Q000235:genetics*; D016368:Frameshift Mutation / Q000235:genetics*; D006801:Humans; D008297:Male