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Comments |
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Type 2N
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2560C>T
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R854W
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No
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Wales
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The mutation creates a restriction site More ...
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Type 2M
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4273A>T
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I1425F
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Yes
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USA
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Montgomery
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VWF:RCo = 4-13, VWF:Ag = 13-36, normal c More ...
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Type 3
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Not Determined
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Null Allele
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No
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USA
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Sadler
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Deletion associated with inhibitory anti More ...
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Type 2A
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1309-1326del
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D437-R442del
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Yes
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USA
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Montgomery
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VWF from abnormal allele has no ristocet More ...
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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 bindin More ...
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Type 2A
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4735G>A
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G1579R
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No
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USA
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Robert Montgomery
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Type 2M
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4173-4205 del
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R1392-Q1402 del
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Yes
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USA
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Montgomery
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VWF:RCo = 3-8, VWF:Ag 14-35, normal mult More ...
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Unclassified
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8416T>C
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C2806R
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Yes
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USA
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Montgomery
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VWF:RCo <12 U/dl, VWF:Ag 30 U/dl, 1 ban More ...
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Type 2B
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3916C>T
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R1306W
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No
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USA
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Montgomery
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Type 3
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5621-269_6799-1161del
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Null Allele
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No
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USA
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Sadler
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Deletion associated with inhibitory anti More ...
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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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USA
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Robert Montgomery
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Type 2B
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3922C>T
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R1308C
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No
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USA
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Montgomery
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Type 1
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3430T>G
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W1144G
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Yes
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USA
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Montgomery
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By virtue of mutation, VWF clearance is More ...
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Type 1
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5023C>T, 5024T>A
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L1675X
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No
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USA
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Montgomery
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Observed in a compound heterozygous pati More ...
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Unclassified
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2279G>A
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R760H
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Yes
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USA
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Montgomery
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Type 2N
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2344C>T
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R782W
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Yes
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USA
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Montgomery
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Occurs with H817Q. Both mutations presen 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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USA
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Information contributed by M. Daly. Both More ...
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Type 2N
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2561G>A
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R854Q
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Yes
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USA
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Montgomery
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Type 2N
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2447G>A
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R816Q
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Yes
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USA
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Owen
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Propositus also has Gaucher's disease.
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Type 1
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2515delG
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842X
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No
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USA
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Montgomery
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A frameshift mutation creates a prematur More ...
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