First Italian families with homozygous R854Q type 2 N Von Willebrand disease

Thrombosis and Haemostasis

Volumn 88, Issue 3, 2002, Pages 534-535

  Castaman, Giancarlo ^a   Novella, Elisabetta ^a   Contino, Laura ^a   Demicheli, Marta ^a   Rodeghiero, Francesco ^a  

^a SAN BORTOLO HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 8; DESMOPRESSIN; EMOSINT; GENOMIC DNA; VON WILLEBRAND FACTOR;

ADULT; BLEEDING TENDENCY; BLEEDING TIME; CASE REPORT; EPISTAXIS; FAMILIAL DISEASE; FEMALE; GENE MUTATION; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; ITALY; LETTER; MENORRHAGIA; PARTIAL THROMBOPLASTIN TIME; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; THROMBOCYTE FUNCTION; VON WILLEBRAND DISEASE; CHILD; FAMILY HEALTH; GENETICS; HOMOZYGOTE; MALE; POINT MUTATION;

ADULT; CHILD; FAMILY HEALTH; FEMALE; HOMOZYGOTE; HUMANS; ITALY; MALE; POINT MUTATION; VON WILLEBRAND DISEASE;

EID: 0036713223     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-0037-1613249     Document Type: Letter

References (8)

1. Type 2 N von Willebrand disease: Clinical manifestations, pathophysiology, laboratory diagnosis and molecular biology
2. Recessive inheritance of von Willebrand's disease type I
3. Very low frequency of "Normandy type" mutations among type 1 von Willebrand disease families
4. Type 2 N von Willebrand disease due to Arg91Gln substitution and a cytosine deletion in exon 18 of the von Willebrand factor gene
5. Combined hemophilia A and type 2 von Willebrand's disease: Defect of both factor VIII level and factor VIII binding capacity of von Willebrand factor
6. Factor VIII:C increases after desmopressin in a subgroup of patients with autosomal recessive von Willebrand disease
7. Structure of the gene for human von Willebrand factor
8. Biological effect of desmopressin in eight patients with type 2N (Normandy) von Willebrand disease