title: Combined protein C and protein S deficiency in a family with repetitive thromboembolism and segregated gene mutations.
abstract: A young man with repetitive deep venous thrombosis of the legs and the inferior vena cava, and his family were eventually diagnosed by means of molecular genetic analysis as having both hereditary protein C and protein S deficiency. There have been a few reports of families with combined protein C and protein S deficiency and only one report of such a family characterized at the DNA level. This was the first reported family in Japan with combined deficiency of protein C and protein S accompanied by segregation of gene lesions.
authors.affiliation: Department of Internal Medicine, Omachi City General Hospital, Omachi.
authors.forename: Mie
authors.initials: M
authors.lastname: Hayashida
authors.forename: Hiroyoshi
authors.initials: H
authors.lastname: Yamada
authors.forename: Satoshi
authors.initials: S
authors.lastname: Yamazaki
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Nomura
authors.forename: Kazuhiko
authors.initials: K
authors.lastname: Yoshimura
authors.forename: Osamu
authors.initials: O
authors.lastname: Kitahara
authors.forename: Kunio
authors.initials: K
authors.lastname: Momose
authors.forename: Keishi
authors.initials: K
authors.lastname: Kubo
authors.forename: Masako
authors.initials: M
authors.lastname: Kurihara
authors.forename: Naotaka
authors.initials: N
authors.lastname: Hamasaki
mesh_terms: D000328:Adult; D020090:Chromosome Segregation; D004252:DNA Mutational Analysis; D005838:Genotype; D006801:Humans; D008297:Male; D017354:Point Mutation; D020151:Protein C Deficiency / Q000150:complications* / Q000235:genetics*; D018455:Protein S Deficiency / Q000150:complications* / Q000235:genetics*; D012008:Recurrence; D013923:Thromboembolism / Q000150:complications* / Q000235:genetics*; D020246:Venous Thrombosis / Q000150:complications* / Q000235:genetics*