Inherited factor V deficiency associated with a novel heterozygous missense mutation (p.G493R) in a patient with excessive surgical bleeding.
Kovács
Kitti B
KB
Clinical Research Center, University of Debrecen, Medical and Health Science Center, Debrecen, Hungary.
Tisza
Bernadett
B
Komáromi
István
I
Muszbek
László
L
Bereczky
Zsuzsanna
Z
D000328:Adult; D016063:Blood Loss, Surgical; D004252:DNA Mutational Analysis; D005165:Factor V / Q000235:genetics* / Q000378:metabolism; D005166:Factor V Deficiency / Q000235:genetics* / Q000503:physiopathology / Q000601:surgery; D005260:Female; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006801:Humans; D020125:Mutation, Missense; D010375:Pedigree; D011110:Polymorphism, Genetic; D011183:Postoperative Complications; D012307:Risk Factors; D014068:Tonsillectomy
D005165:Factor V