title: [Thrombosis in a probable double heterozygote young man from an asymptomatic family with protein C deficiency and protein C dysfunction].
abstract: A family with combined quantitative and qualitative protein C deficiency is presented. The probably double heterozygote propositus with 7% residual amidolytic protein C activity had deep leg vein thrombosis at the age of seventeen. Other family members were asymptomatic.
authors.affiliation: Department für Innere Medizin, Kantonsspital Basel.
authors.forename: D A
authors.initials: DA
authors.lastname: Tsakiris
authors.forename: G A
authors.initials: GA
authors.lastname: Marbet
authors.forename: B
authors.initials: B
authors.lastname: Zbinden
authors.forename: F
authors.initials: F
authors.lastname: Duckert
authors.forename: L
authors.initials: L
authors.lastname: Biland
mesh_terms: D000293:Adolescent; D000328:Adult; D001780:Blood Coagulation Tests; D001796:Blood Protein Disorders / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D020151:Protein C Deficiency; D013924:Thrombophlebitis
vernacular_title: Thrombose bei einem wahrscheinlich doppelt-heterozygoten jungen Mann aus einer asymptomatischen Familie mit Protein-C-Mangel und Protein-C-Dysfunktion.