Polymorphic variation within the VWF gene contributes to the failure to detect mutations in patients historically diagnosed with type 1 von willebrand disease from the MCMDM-1VWD cohort

Haematologica

Volumn 95, Issue 12, 2010, Pages 2163-2165

  Hampshire, Daniel J ^a   Burghel, George J ^a   Goudem, Jenny ^b   Bouvet, Laura C S ^a   Eikenboom, Jeroen C J ^c   Schneppenheim, Reinhard ^d   Budde, Ulrich ^e   Peake, Ian R ^a   Goodeve, C ^a  

^a UNIVERSITY OF SHEFFIELD   (United Kingdom)

^b LILLE UNIVERSITY HOSPITAL   (France)

^c LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^d UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^e Hemostaseology Department   (Germany)

Author keywords

Mutation; Single nucleotide polymorphism; Von Willebrand factor; VWF FVIII binding defect

Indexed keywords

GENOMIC DNA; VON WILLEBRAND FACTOR;

CLINICAL FEATURE; COHORT ANALYSIS; FRAMESHIFT MUTATION; GENE AMPLIFICATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; LETTER; LINKAGE ANALYSIS; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SPLICING DEFECT; VON WILLEBRAND DISEASE;

DNA PRIMERS; EUROPE; FAMILY HEALTH; GENE FREQUENCY; GENOTYPE; HUMANS; MUTATION; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; VON WILLEBRAND DISEASE, TYPE 1; VON WILLEBRAND FACTOR;

EID: 78649871678     PISSN: 03906078     EISSN: 15928721     Source Type: Journal    
DOI: 10.3324/haematol.2010.027177     Document Type: Letter

References (14)

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