title: Antithrombin-p.Ala416Pro: the second reported case in Japan.
abstract: A 42-year-old man was referred to our department due to recurrent deep venous thrombosis. He, his father and his aunt had low antithrombin (AT) heparin cofactor activity and progressive AT activity levels with normal AT antigen levels. A single nucleotide substitution of G to C was found at nucleotide position c.1246 in exon 7 of the patient's AT gene, resulting in a p.Ala416Pro mutation of AT. The same mutation was identified in his father and aunt, but not his sister, who had a normal AT level. These results show that the AT-p.Ala416Pro mutation was responsible for type IIa AT deficiency in this family.
authors.affiliation: Department of Hematology, Tokushima Prefectural Central Hospital, Japan.
authors.forename: Toshio
authors.initials: T
authors.lastname: Shigekiyo
authors.forename: Etsuko
authors.initials: E
authors.lastname: Sekimoto
authors.forename: Hironobu
authors.initials: H
authors.lastname: Shibata
authors.forename: Shuji
authors.initials: S
authors.lastname: Ozaki
authors.forename: Atsushi
authors.initials: A
authors.lastname: Kurushima
authors.forename: Ken-ichi
authors.initials: K
authors.lastname: Aihara
mesh_terms: D000328:Adult; D000990:Antithrombin III / Q000235:genetics* / Q000378:metabolism; D020152:Antithrombin III Deficiency / Q000097:blood / Q000235:genetics*; D001780:Blood Coagulation Tests; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons; D006801:Humans; D007564:Japan; D008297:Male; D009154:Mutation; D010375:Pedigree
chemical_list: D000990:Antithrombin III; D004247:DNA