Recessive inheritance of von Willebrand's disease type I

The Lancet

Volumn 341, Issue 8851, 1993, Pages 982-986

  Eikenboom, J C J ^a   Reitsma, P H ^a   Briet, E ^a   Peerlinck, K M J ^b  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF LEUVEN   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; FAMILY STUDY; FEMALE; GENETIC COUNSELING; HUMAN; MALE; PRIORITY JOURNAL; RECESSIVE INHERITANCE; VON WILLEBRAND DISEASE;

FEMALE; GENES, RECESSIVE; HETEROZYGOTE; HUMAN; MALE; MUTATION; PEDIGREE; SUPPORT, NON-U.S. GOV'T; VON WILLEBRAND DISEASE; VON WILLEBRAND FACTOR;

EID: 0027537705     PISSN: 01406736     EISSN: None     Source Type: Journal    
DOI: 10.1016/0140-6736(93)91070-3     Document Type: Article

References (26)

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7. Apparent "dominant" and "recessive" inheritance of von Willebrand's disease within the same kindreds. Possible biochemical mechanisms
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10. Family studies and prenatal diagnosis in severe von Willebrand disease by polymerase chain reaction amplification of a variable number tandem repeat region of the von Willebrand factor gene
11. Tetranucleotide repeat polymorphism in the vWF gene
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13. 854 by Gln in the putative factor-VIII-binding domain of von Willebrand factor (vWF) on one allele and very low levels of mRNA from the second vWF allele
14. Molecular characterisation of a unique von Willebrand disease variant A novel mutation affecting von Willebrand factor/factor VIII interaction
15. Abnormal binding of factor VIII is linked with the substitution of glutamine for arginine 91 in von Willebrand factor in a variant form of von Willebrand disease
16. Identification of two point mutations in the von Willebrand factor gene of three families with "Normandy" variant of von Willebrand disease
17. Severe von Willebrand disease due to a defect at the level of von Willebrand factor mRNA expression: detection by exonic PCR-restriction fragment length polymorphism analysis
18. RsaI polymorphism in von Willebrand factor (vWF) at codon 789
19. An HphI polymorphism in exon 28 of the von Willebrand factor gene and its frequency among patients with various forms of von Willebrand's disease
20. Structure of the von Willebrand factor domain interacting with glycoprogein Ib
21. Definition of von Willebrand factor (vWF)-GP Ib-IX complex interaction using vWF-based peptides
22. 503→Leu in patients with increased von Willebrand factor affinity for platelets but no alteration of its multimeric structure of von Willebrand factor
23. A new von Willebrand variant (type I, New York): increased ristocetin-induced platelet aggregation and plasma von Willebrand factor containing the full range of multimers
24. Family studies in von Willebrand's disease by analysis of restriction fragment length polymorphisms and an intragenic variable number tandem repeat (VNTR) sequence
25. Expression of von Willebrand factor "Normandy": an autosomal mutation that mimics hemophilia A
26. The mutation Arg (53)→Trp causes von Willebrand disease Normandy by abolishing binding to factor VIII. Studies with recombinant von Willebrand factor