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

British Journal of Haematology

Volumn 163, Issue 3, 2013, Pages 414-417

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

^a MEDICAL UNIVERSITY OF GRAZ   (Austria)

^b DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

Author keywords

Activated protein C ratio; Activated protein C resistance; Factor V Graz; Pseudo homozygous factor V Leiden; Pseudo wild type factor V Leiden

Indexed keywords

ACTIVATED PROTEIN C; BLOOD CLOTTING FACTOR 5 LEIDEN;

ACTIVATED PROTEIN C RESISTANCE; ADOLESCENT; ALLELE; CASE REPORT; DNA POLYMORPHISM; F5 GENE; FAMILY HISTORY; FEMALE; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GENOTYPE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; LETTER; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; RISK ASSESSMENT; RISK FACTOR; SEQUENCE ANALYSIS; VENOUS THROMBOEMBOLISM;

ACTIVATED PROTEIN C RATIO; ACTIVATED PROTEIN C RESISTANCE; FACTOR V GRAZ; PSEUDO-HOMOZYGOUS FACTOR V LEIDEN; PSEUDO-WILD-TYPE FACTOR V LEIDEN;

ACTIVATED PROTEIN C RESISTANCE; ADOLESCENT; AMINO ACID SUBSTITUTION; ASYMPTOMATIC DISEASES; BLOOD COAGULATION TESTS; ENZYME ACTIVATION; FACTOR V; FEMALE; HETEROZYGOTE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; POINT MUTATION; PROTEIN C; PROTEIN STABILITY; PROTEIN STRUCTURE, TERTIARY; THROMBOPHILIA;

EID: 84885408854     PISSN: 00071048     EISSN: 13652141     Source Type: Journal    
DOI: 10.1111/bjh.12506     Document Type: Letter

References (10)

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