Autosomal recessive Von Willebrand disease associated with compound heterozygosity for a novel nonsense mutation (2908 del C) and the missense mutation C2362F: Definite evidence for the non-penetrance of the C2362F mutation

American Journal of Hematology

Volumn 82, Issue 5, 2007, Pages 376-380

  Castaman, G ^a   Bertoncello, K ^a   Bernardi, M ^a   Eikenboom, J C J ^b   Budde, U ^c   Rodeghiero, F ^a  

^a SAN BORTOLO HOSPITAL   (Italy)

^b LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^c Arndt and Partner   (Germany)

Author keywords

Inherited bleeding disorder; Von Willebrand disease; Von Willebrand factor

Indexed keywords

BLOOD CLOTTING FACTOR 8; CYTOSINE; RISTOCETIN; VON WILLEBRAND FACTOR;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BITE; BLEEDING; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; EPISTAXIS; EXON; FAMILIAL DISEASE; FEMALE; GENE DELETION; HETEROZYGOSITY; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; MALE; MISSENSE MUTATION; NONSENSE MUTATION; NULL ALLELE; PENETRANCE; PRIORITY JOURNAL; QUESTIONNAIRE; VON WILLEBRAND DISEASE;

ALLELES; BIOPOLYMERS; BLOOD PROTEIN ELECTROPHORESIS; CHILD, PRESCHOOL; CODON, NONSENSE; EXONS; GENES, RECESSIVE; HEMORRHAGE; HETEROZYGOTE; HUMANS; ITALY; MALE; MUTATION, MISSENSE; PEDIGREE; PENETRANCE; POINT MUTATION; SEQUENCE DELETION; VON WILLEBRAND DISEASE; VON WILLEBRAND FACTOR;

EID: 34247496343     PISSN: 03618609     EISSN: 10968652     Source Type: Journal    
DOI: 10.1002/ajh.20803     Document Type: Article

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