Phenotypic and genotypic characterization of 10 Finnish patients with von Willebrand disease type 3: Discovery of two main mutations

Haemophilia

Volumn 19, Issue 6, 2013, Pages

  Jokela, V ^a   Lassila, R ^a,b   Szanto, T ^b   Joutsi Korhonen, L ^b   Armstrong, E ^a   Oyen, F ^c   Schneppenheim, S ^d   Schneppenheim, R ^c  

^a HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^b UNIVERSITY OF HELSINKI   (Finland)

^c UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^d Medilys Laboratory   (Germany)

Author keywords

Genetic defect; Inherited bleeding disorder; Type 3; Von Willebrand's disease

Indexed keywords

VON WILLEBRAND FACTOR;

ALLELE; ARTICLE; BLEEDING TENDENCY; CLINICAL ARTICLE; EXON; FEMALE; FINLAND; FRAMESHIFT MUTATION; GENE DELETION; GENETIC ANALYSIS; GENETIC SCREENING; GENOTYPE; HUMAN; MALE; NONSENSE MUTATION; PHENOTYPE; POPULATION GENETICS; PRIORITY JOURNAL; THROMBOCYTE FUNCTION; VON WILLEBRAND DISEASE;

GENETIC DEFECT; INHERITED BLEEDING DISORDER; TYPE 3; VON WILLEBRAND'S DISEASE;

ADULT; AGED; ALLELES; CODON, NONSENSE; FEMALE; FINLAND; FRAMESHIFT MUTATION; GENOTYPE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MALE; MIDDLE AGED; PHENOTYPE; VON WILLEBRAND DISEASE, TYPE 3; VON WILLEBRAND FACTOR;

EID: 84886640959     PISSN: 13518216     EISSN: 13652516     Source Type: Journal    
DOI: 10.1111/hae.12225     Document Type: Article

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