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Comments |
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Deletion VWF
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20
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Type 3
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-44001_8442*35068del
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Null Allele
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No
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Italy
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Zimmerman
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Result of non-homologous recombination. Deletion associated with inhibitory anti More ...
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Ngo et al., 1988
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28
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200
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Type 2B
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3910A>G
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M1304V
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No
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Argentina
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Woods
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Heterozygote patients (a boy, his mother, and his aunt) with normal platelet cou More ...
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|
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3
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200
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Type 3
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100C>T
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R34X
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No
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Spain
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Vidal
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Homozygous mutation.
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Corrales et al., 2009
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28
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200
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Type 3
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3835G>A
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V1279I
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No
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Pakistan
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Vidal
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Identified as part of a homozygous gene conversion event in conjunction with mut More ...
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Corrales et al., 2009
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26
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200
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Type 3
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3467C>T
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T1156M
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No
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Spain
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Vidal
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Compound heterozygous mutation found in trans with mutation c.7730-1G>C. VWF:Ag More ...
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35
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200
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Type 1
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5890C>A
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Q1964K
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No
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Spain
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Vidal
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VWF:Ag 33%, VWF:RCo 42%, FVIII:C 45%. Patient also has a mild FXII deficiency (3 More ...
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45
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200
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Type 3
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7664_7665insAG
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C2557SfsX8
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No
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Spain
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Vidal
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Homozygous mutation.
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Corrales et al., 2009
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46
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200
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Type 1 / 3
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7730-1G>C
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Not Determined
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Yes
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Spain
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Vidal
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Compound heterozygous mutation in trans with mutation p.R854Q (type 1: VWF:Ag 40 More ...
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Corrales et al., 2009
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28
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200
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Type 2A
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4628C>T
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S1543F
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No
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Spain
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Vidal
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VWF:Ag 57%, VWF:RCo 9%, FVIII:C 45%, ABO AB blood group. Multimeric patterns com More ...
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|
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15
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200
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Type 1
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1781C>G
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A594G
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No
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Spain
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Vidal
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VWF:Ag 37%, VWF:RCo 38%, FVIII:C 63%, ABO A blood group.
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Corrales et al., 2009
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