A novel factor V mutation causes a normal activated protein C ratio despite the presence of a heterozygous F5 R506Q (factor V Leiden) mutation

Florian Prüller; Reinhard B Raggam; Harald Mangge; Martie Truschnig-Wilders; Eva-Maria Matzhold; Eva-Christine Weiss; Barbara Hasiba; Kelli L Summers; Wilfried Renner; Gabriele Siegert; Heike Kostka

doi:10.1111/bjh.12506

A novel factor V mutation causes a normal activated protein C ratio despite the presence of a heterozygous F5 R506Q (factor V Leiden) mutation

Br J Haematol. 2013 Nov;163(3):414-7. doi: 10.1111/bjh.12506. Epub 2013 Aug 19.

Authors

Florian Prüller¹, Reinhard B Raggam, Harald Mangge, Martie Truschnig-Wilders, Eva-Maria Matzhold, Eva-Christine Weiss, Barbara Hasiba, Kelli L Summers, Wilfried Renner, Gabriele Siegert, Heike Kostka

Affiliation

¹ 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. [email protected].

No abstract available

Keywords: activated protein C ratio; activated protein C resistance; factor V Graz; pseudo-homozygous factor V Leiden; pseudo-wild-type factor V Leiden.

Publication types

Letter

MeSH terms

Activated Protein C Resistance / genetics
Adolescent
Amino Acid Substitution*
Asymptomatic Diseases
Blood Coagulation Tests
Enzyme Activation / genetics
Factor V / chemistry
Factor V / genetics*
Female
Heterozygote
Humans
Male
Molecular Sequence Data
Mutation, Missense*
Pedigree
Point Mutation*
Protein C / analysis*
Protein Stability
Protein Structure, Tertiary
Thrombophilia / genetics

Substances

Protein C
factor V Leiden
Factor V

Associated data

GENBANK/JF816043