title: Population study of the G1691A mutation (R506Q, FV Leiden) in the human factor V gene that is associated with resistance to activated protein C.
abstract: The mutation G1691A (R506Q) in the human factor V gene is associated with the resistance to activated protein C (APC) that represents a major risk of development of venous thrombosis. A population study of 180 unrelated individuals from south Germany was performed. Examination of the allelic frequencies revealed a high prevalence of this disease-related mutation (Q506, FV Leiden). The heterozygosity rate was 7.8% with a confidence interval between 4% and 11%.
authors.affiliation: Dr. v. Haunersches Kinderspital, Department of Clinical Chemistry and Biochemistry, University of Munich, Germany.
authors.forename: A
authors.initials: A
authors.lastname: Braun
authors.forename: B
authors.initials: B
authors.lastname: Müller
authors.forename: A A
authors.initials: AA
authors.lastname: Rosche
mesh_terms: D001483:Base Sequence; D005165:Factor V / Q000235:genetics*; D005787:Gene Frequency; D006580:Genetic Carrier Screening; D005820:Genetic Testing; D005858:Germany; D006801:Humans; D008969:Molecular Sequence Data; D017354:Point Mutation; D011486:Protein C / Q000502:physiology*; D013924:Thrombophlebitis / Q000235:genetics
chemical_list: D011486:Protein C; C095381:factor V Leiden; D005165:Factor V