title: A novel factor V mutation causes a normal activated protein C ratio despite the presence of a heterozygous F5 R506Q (factor V Leiden) mutation.
authors: Clinical Institute of Medical and Chemical Laboratory Diagnostics, Medical University of Graz, Graz, Austria; Research Unit Perioperative Platelet Function, Medical University of Graz, Graz, Austria. florian.prueller@medunigraz.at.
authors: Florian
authors: F
authors: Prüller
authors: Reinhard B
authors: RB
authors: Raggam
authors: Harald
authors: H
authors: Mangge
authors: Martie
authors: M
authors: Truschnig-Wilders
authors: Eva-Maria
authors: EM
authors: Matzhold
authors: Eva-Christine
authors: EC
authors: Weiss
authors: Barbara
authors: B
authors: Hasiba
authors: Kelli L
authors: KL
authors: Summers
authors: Wilfried
authors: W
authors: Renner
authors: Gabriele
authors: G
authors: Siegert
authors: Heike
authors: H
authors: Kostka
mesh_terms: D020016:Activated Protein C Resistance / Q000235:genetics; D000293:Adolescent; D019943:Amino Acid Substitution; D058070:Asymptomatic Diseases; D001780:Blood Coagulation Tests; D004789:Enzyme Activation / Q000235:genetics; D005165:Factor V / Q000737:chemistry / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D010375:Pedigree; D017354:Point Mutation; D011486:Protein C / Q000032:analysis*; D055550:Protein Stability; D017434:Protein Structure, Tertiary; D019851:Thrombophilia / Q000235:genetics
chemical_list: D011486:Protein C; C095381:factor V Leiden; D005165:Factor V
keywords: activated protein C ratio; activated protein C resistance; factor V Graz; pseudo-homozygous factor V Leiden; pseudo-wild-type factor V Leiden
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