Autosomal dominant type 1 von Willebrand disease due to G3639T mutation (C1130F) in exon 26 of von Willebrand factor gene: Description of five Italian families and evidence for a founder effect

British Journal of Haematology

Volumn 108, Issue 4, 2000, Pages 876-879

  Castaman, Giancarlo ^a   Eikenboom, Jeroen C J ^b   Missiaglia, Edoardo ^a   Rodeghiero, Francesco ^a  

^a SAN BORTOLO HOSPITAL   (Italy)

^b LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Haplotype analysis; Inherited bleeding disorder; Von Willebrand disease; Von Willebrand factor

Indexed keywords

VON WILLEBRAND FACTOR;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; BLEEDING DISORDER; CLINICAL ARTICLE; DRUG RESPONSE; FAMILY STUDY; FEMALE; FOUNDER EFFECT; GENE MUTATION; GENOTYPE; HAPLOTYPE; HETEROZYGOSITY; HUMAN; ITALY; MALE; PRIORITY JOURNAL; VON WILLEBRAND DISEASE;

DEAMINO ARGININE VASOPRESSIN; FEMALE; FOUNDER EFFECT; GENES, DOMINANT; GENOTYPE; HAPLOTYPES; HEMOSTATICS; HUMANS; ITALY; MALE; PHENOTYPE; POINT MUTATION; VON WILLEBRAND DISEASE; VON WILLEBRAND FACTOR;

EID: 0034030513     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.2000.01944.x     Document Type: Article

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