Deficiencies of antithrombin, protein C and protein S - practical experience in genetic analysis of a large patient cohort

• Published in: Thrombosis and haemostasis Vol. 108; no. 2; p. 247
• Main Authors: Caspers, Michael, Pavlova, Anna, Driesen, Julia, Harbrecht, Ursula, Klamroth, Robert, Kadar, Janos, Fischer, Ronald, Kemkes-Matthes, Bettina, Oldenburg, Johannes
• Format: Journal Article
• Language: English
• Published: Germany 01.08.2012
• Subjects: Antithrombin III - genetics; Antithrombin III Deficiency - genetics; Cohort Studies; DNA Mutational Analysis; Female; Genotype; Germany; Humans; Male; Models, Genetic; Mutation; Mutation, Missense; Prevalence; Protein C - genetics; Protein C Deficiency - genetics; Protein S - genetics; Protein S Deficiency - genetics; Thrombophilia - genetics; Germany

Deficiencies of natural anticoagulant proteins including antithrombin (AT), protein C (PC) and protein S (PS) are important causes of inherited thrombophilia. This study aimed to report on the practical experience gained in performing genetic analyses of a large cohort of patients with AT, PC and PS...