A novel deletion mutation is recurrent in von Willebrand disease types 1 and 3

Blood

Volumn 114, Issue 5, 2009, Pages 1091-1098

  Sutherland, Megan S ^a   Cumming, Anthony M ^a   Bowman, Mackenzie ^b   Bolton Maggs, Paula H B ^a   Bowen, Derrick J ^c   Collins, Peter W ^c   Hay, Charles R M ^a   Will, Andrew M ^d   Keeney, Stephen ^a  

^a MANCHESTER ROYAL INFIRMARY   (United Kingdom)

^b QUEEN S UNIVERSITY   (Canada)

^c CARDIFF UNIVERSITY SCHOOL OF MEDICINE   (United Kingdom)

^d ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; MESSENGER RNA; VON WILLEBRAND FACTOR; HYBRID PROTEIN;

ARTICLE; ASIAN; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA DETERMINATION; EXON; GENE DELETION; GENE EXPRESSION; GENE MUTATION; GENOMICS; GENOTYPE; HAPLOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; PRIORITY JOURNAL; RACE DIFFERENCE; VON WILLEBRAND DISEASE; ADOLESCENT; ADULT; AGED; BIOSYNTHESIS; CAUCASIAN; CHEMISTRY; CLASSIFICATION; DNA SEQUENCE; DOMINANT GENE; ETHNOLOGY; FEMALE; FOUNDER EFFECT; GENETICS; MALE; MIDDLE AGED; SECRETION; UNITED KINGDOM;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; ASIAN CONTINENTAL ANCESTRY GROUP; ENGLAND; EUROPEAN CONTINENTAL ANCESTRY GROUP; EXONS; FEMALE; FOUNDER EFFECT; GENES, DOMINANT; GENOTYPE; HAPLOTYPES; HUMANS; MALE; MIDDLE AGED; RECOMBINANT FUSION PROTEINS; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION; VON WILLEBRAND DISEASE; VON WILLEBRAND FACTOR; YOUNG ADULT;

EID: 69949091880     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2008-08-173278     Document Type: Article

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