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Comments |
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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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Argentina
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Lazzari
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Type 2N
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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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Casana
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Type 2N
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2561G>A
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R854Q
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?
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Germany
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Schneppenheim
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Four patients from 4 families were homoz More ...
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Type 2N
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2561G>A
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R854Q
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No
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Netherlands
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Bertina
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All patients heterozygous, second allele 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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England
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Peake
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Both patients are homozygotes.
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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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Mazurier
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The patients from unrelated families are 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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France
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Mazurier
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Patients are heterozygotes for the mutat More ...
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Type 2N
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2561G>A
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R854Q
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No
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Type 2N
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2561G>A
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R854Q
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No
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|
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Heterozygote; other allele not expressed 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
|
Montgomery
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|
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Type 2N
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2561G>A
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R854Q
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No
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France
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Mazurier
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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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US
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Ginsburg
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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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EU
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MCMDM-1VWD
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Mutation associated with a normal multim 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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Canada
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Lillicrap
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Occurred with a frequency of 0.66 in una 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 2N
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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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Batlle
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VWF:Ag 42 IU/dL, VWF:RCo 37.3 IU/dL, FVI More ...
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