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
Haematologicajournal_title
Haematologicaauthors
Casaña P,Cabrera N,Haya S,Cid AR,Aznar JAsubject
Has Abstractpub_date
2006-08-01 00:00:00pages
1130-3issue
8eissn
0390-6078issn
1592-8721pii
03906078_9923journal_volume
91pub_type
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