TY - JOUR
T1 - Heightened proteolysis of the von Willebrand factor subunit in patients with von Willebrand disease hemizygous or homozygous for the C2362F mutation
AU - Castaman, Gtancarlo
AU - Eienboom, Jeroen C J
AU - Lattuada, Antonella
AU - Mannucci, Pier Mannuccio
AU - Rodeghiero, Francesco
PY - 2000
Y1 - 2000
N2 - We studied the proteolytic pattern of the mutant von Willebrand factor (VWF) in four patients with yon Willebrand disease (VWD) who were either homozygous or hemizygous for the mutation C2362F. A significant decrease in the native fragment of 225 kDa was evident in all the patients, together with a marked increase in the 176 and 140 kDa fragments, a pattern usually observed in type 2A VWD. The proteolytic pattern measured in four heterozygotes for C2362F was within the normal range, suggesting that the mutant VWF C2362F present in the plasma of these patients may be protected from proteolysis by normal VWF.
AB - We studied the proteolytic pattern of the mutant von Willebrand factor (VWF) in four patients with yon Willebrand disease (VWD) who were either homozygous or hemizygous for the mutation C2362F. A significant decrease in the native fragment of 225 kDa was evident in all the patients, together with a marked increase in the 176 and 140 kDa fragments, a pattern usually observed in type 2A VWD. The proteolytic pattern measured in four heterozygotes for C2362F was within the normal range, suggesting that the mutant VWF C2362F present in the plasma of these patients may be protected from proteolysis by normal VWF.
KW - Inherited bleeding disorders
KW - Von Willebrand disease
KW - Von Willebrand factor
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U2 - 10.1046/j.1365-2141.2000.01807.x
DO - 10.1046/j.1365-2141.2000.01807.x
M3 - Article
C2 - 10651743
AN - SCOPUS:0033969617
VL - 108
SP - 188
EP - 190
JO - British Journal of Haematology
JF - British Journal of Haematology
SN - 0007-1048
IS - 1
ER -