The first case of combined coagulation factor v and coagulation factor VIII deficiency in Poland due to a novel p.Tyr135Asn missense mutation in the MCFD2 gene

Blood Coagulation and Fibrinolysis

Volumn 19, Issue 6, 2008, Pages 531-534

  Ivaskevicius, Vytautas ^a   Windyga, Jerzy ^b   Baran, Beata ^b   Bykowska, Ksenia ^b   Daugela, Laurynas ^a   Watzka, Matthias ^a   Seifried, Erhard ^c   Oldenburg, Johannes ^a  

^a UNIVERSITY HOSPITAL BONN   (Germany)

^b INSTITUTE OF HEMATOLOGY AND TRANSFUSION MEDICINE   (Poland)

^c Institute of Transfusion Medicine and Immunohaematology   (Germany)

Author keywords

F5F8D; LMAN1; MCFD2; Mutation analysis

Indexed keywords

AMINO ACID; ASPARAGINE; BLOOD CLOTTING FACTOR 5; BLOOD CLOTTING FACTOR 8; ELONGATION FACTOR; TYROSINE; LMAN1 PROTEIN, HUMAN; MANNOSE BINDING LECTIN; MCFD2 PROTEIN, HUMAN; MEMBRANE PROTEIN; UNCLASSIFIED DRUG; VESICULAR TRANSPORT PROTEIN;

ADULT; ARTICLE; BLEEDING DISORDER; BLOOD CLOTTING FACTOR 5 DEFICIENCY; CASE REPORT; COMBINED COAGULATION FACTOR V AND COAGULATION FACTOR VIII DEFICIENCY; DNA FLANKING REGION; EPISTAXIS; FAMILY; FEMALE; GENE INTERACTION; GENE SEQUENCE; GENETIC VARIABILITY; HEMOPHILIA A; HOMOZYGOSITY; HUMAN; INJURY; MALE; MCFD2 GENE; MENORRHAGIA; MISSENSE MUTATION; PHENOTYPE; POLAND; POSTPARTUM HEMORRHAGE; PRIORITY JOURNAL; TOOTH EXTRACTION; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; GENETICS; METABOLISM; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PEDIGREE; POINT MUTATION; PREGNANCY; PROTEIN TERTIARY STRUCTURE; SEQUENCE ALIGNMENT; SEQUENCE HOMOLOGY;

ADULT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; CONSERVED SEQUENCE; FACTOR V DEFICIENCY; FEMALE; HEMOPHILIA A; HUMANS; MANNOSE-BINDING LECTINS; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; POINT MUTATION; POLAND; POSTPARTUM HEMORRHAGE; PREGNANCY; PROTEIN STRUCTURE, TERTIARY; SEQUENCE ALIGNMENT; SEQUENCE HOMOLOGY, AMINO ACID; VESICULAR TRANSPORT PROTEINS;

EID: 58149140521     PISSN: 09575235     EISSN: None     Source Type: Journal    
DOI: 10.1097/MBC.0b013e3283061103     Document Type: Article

References (6)

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