Table 1

Characteristics of investigated subjects

SubjectSexBlood groupNucleotide changeAmino acid changeVWF:Ag, IU/dLVWF:RCo, IU/dLVWF:RCo/ VWF:AgFVIII:C, IU/dLVWF:CB, IU/dLMultimer patternVWD type*
P6F1III1 Female O/O c.2561G>A p.Arg854Gln 73 114 1.56 59 Not tested Normal 2N 
P6F3II1§ Female O/O c.3853T>C p.Ser1285Pro 16 0.19 27 Abnormal 
P6F13II1§ Female O/O c.3920T>C p.Leu1307Pro 16 0.44 33 Abnormal 2A 
P6F12II1§ Female O/O c.4751A>G p.Tyr1584Cys 48 36 0.75 64 52 Normal 
P6F16II1§ Female O/O c.8078G>A p.Cys2693Tyr 46 64 1.39 69 42 Normal 
SubjectSexBlood groupNucleotide changeAmino acid changeVWF:Ag, IU/dLVWF:RCo, IU/dLVWF:RCo/ VWF:AgFVIII:C, IU/dLVWF:CB, IU/dLMultimer patternVWD type*
P6F1III1 Female O/O c.2561G>A p.Arg854Gln 73 114 1.56 59 Not tested Normal 2N 
P6F3II1§ Female O/O c.3853T>C p.Ser1285Pro 16 0.19 27 Abnormal 
P6F13II1§ Female O/O c.3920T>C p.Leu1307Pro 16 0.44 33 Abnormal 2A 
P6F12II1§ Female O/O c.4751A>G p.Tyr1584Cys 48 36 0.75 64 52 Normal 
P6F16II1§ Female O/O c.8078G>A p.Cys2693Tyr 46 64 1.39 69 42 Normal 
*

VWD type according to the 2006 classification.

Asymptomatic participants.

The multimer abnormality is minimal and fits classification of VWD type 1.30 

§

Characteristics of these 4 participants have been reported previously.29 

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