Von Willebrand's disease: a novel mutation, P1824H and the incidence of R1205H defect among families with dominant quantitative von Willebrand factor deficiency.

Abstract:

:To date, few mutations associated with a dominant quantitative deficiency of von Willebrand factor (VWF) and a high penetrance have been reported. This phenotype was confirmed in seven unrelated families of several patients diagnosed with von Willebrand's disease out of 70 who requested genetic studies of the VWF gene. The mutations linked to this type were identified: R1205H in five families; T1156M in one family; and the new P1824H alteration in one other family. The R1205H mutation linked to the different haplotypes might well be frequent among this variant. The P1824H in the A3 domain is associated with very low VWF levels and with a moderate-to-severe bleeding tendency, unlike the other mutations reported in this domain.

journal_name

Haematologica

journal_title

Haematologica

authors

Casaña P,Cabrera N,Haya S,Cid AR,Aznar JA

subject

Has Abstract

pub_date

2006-08-01 00:00:00

pages

1130-3

issue

8

eissn

0390-6078

issn

1592-8721

pii

03906078_9923

journal_volume

91

pub_type

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