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Comments |
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24
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206
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Type 1
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3179G>A
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C1060Y
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No
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EU
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MCMDM-1VWD
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Mutation heterozygous. VWF:Ag 36IU/dL, VWF:RCo 28IU/dL, FVIII:C 39IU/dL, VWF:FVI More ...
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Hampshire et al., 2010
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18
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226
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Type 2N
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2365A>C
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T789P
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No
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Iran
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Mutation found to be homozygous in affected individuals. Heterozygous carriers w More ...
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Enayat et al., 2010
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18
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212
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Type 2N
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2365G>C
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A789P
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No
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UK
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Patient's phenotype was characterized by a mild decrease in plasma FVIII and VWF More ...
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Enayat et al., 2010
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26
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Type 2A
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3437A>G
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Y1146C
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Yes
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Germany
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Schneppenheim
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VWF:Ag 0.20+/-0.07; VWF:CB 0.16+/-0.06; VWF:RCo 0.07+/-0.03 FVIII:C 0.35+/-0.31 More ...
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Schneppenheim et al., 2010
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31
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6
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Type 2M
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5356C>G
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H1786D
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Yes
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USA
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Montgomery, ZPMCB-VWD
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The mutation results in defective binding to both type I and type III collagen.
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Flood et al., 2010
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30
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6
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Type 2M
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5235G>T
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W1745C
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Yes
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UK
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Gomez
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VWF:Ag=29IU/dL, VWF:RCo=27IU/dL, VWF:CB(type III collagen)=10IU/dL. Multimers we More ...
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Riddell et al., 2009
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31
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4
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Type 2M
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5347T>G
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S1783A
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Yes
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UK
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Gomez
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VWF:Ag=68IU/dL, VWF:RCo=66IU/dL, VWF:CB (type III collagen)=19IU/dL. Multimers w More ...
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Riddell et al., 2009
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Deletion exons 04-05
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310
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Type 1 / 3
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221-977_532+7059del
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D75_G178del
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Yes
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England
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University Department of Haematology, Manchester
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Result of Alu-mediated homologous recombination. VWF:Ag 23 IU/dL, VWF:RCo 21 IU/ More ...
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Sutherland et al., 2009
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26
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100
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Type 2A
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3445T>C
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C1149R
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No
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Spain
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Batlle
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VWF:Ag 8.0 IU/dL, VWF:RCo 5.0 IU/dL, FVIII:C 18.1 IU/dL, VWF:CB IU/dL. Plasma VW More ...
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Pérez-Rodríguez et al., 2009
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28
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200
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Type 2A
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4121G>A
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R1374H
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No
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Spain
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Vidal
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VWF:Ag 43%, VWF:RCo 7%, FVIII:C 42%, ABO A blood group. Multimeric patterns comp More ...
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Corrales et al., 2009
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