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Comments |
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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. More ...
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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 More ...
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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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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 More ...
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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 More ...
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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%. Pa More ...
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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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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 More ...
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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 More ...
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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%, AB More ...
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Type 3
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8155+3G>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 More ...
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Type 3
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375_376delGTinsC
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Y126TfsX49
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No
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Spain
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Vidal
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Homozygous mutation inherited in cis wit More ...
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Type 1
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2561G>A
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R854Q
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No
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Spain
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Vidal
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Compound heterozygous mutation found in More ...
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Type 2A
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4883T>C
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I1628T
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No
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Spain
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Vidal
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Heterozygous mutation identified in four More ...
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Type 1
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1533+15G>A
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Not Determined
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No
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Spain
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Vidal
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Type 2A
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4789C>T
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R1597W
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No
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Spain / Romania
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Vidal
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Heterozygous mutation identified in two More ...
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Type 3
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533-2A>G
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Not Determined
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No
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Spain
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Vidal
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Homozygous mutation inherited in cis wit More ...
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Type 2N
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2446C>T
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R816W
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No
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Spain
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Vidal
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Compound heterozygous mutation found in More ...
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Type 3
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4027A>G
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I1343V
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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 More ...
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Type 3
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4079T>C
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V1360A
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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 More ...
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