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Comments |
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Unclassified
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3943C>T
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R1315C
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Yes
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France
|
French Network
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rVWF shows decreased binding to GPIb.
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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
|
USA
|
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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4121G>T
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R1374L
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Yes
|
France & Algeria
|
French Network
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One patient is compound heterozygous; R1 More ...
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Unclassified
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4121G>A
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R1374H
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Yes
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France
|
Mazurier
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|
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Unclassified
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4120C>T
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R1374C
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Yes
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France
|
Mazurier
|
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Type 2B
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4115T>G
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I1372S
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Yes
|
Italy
|
Casonato
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The mutation was found in a heterozygous More ...
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Type 2M
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4105T>A
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F1369I
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Yes
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US
|
Montgomery
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|
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Type 2M
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4085A>C
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K1362T
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Yes
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France
|
French Network
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The patient, with type 2A VWD, is double More ...
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Type 2M
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4075G>A
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E1359K
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Yes
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France
|
French Network
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Type 2B
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4022G>T
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R1341L
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Yes
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Mazurier
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Type 2B
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4022G>A
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R1341Q
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Yes
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Type 2B
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4010C>T
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P1337L
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Yes
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|
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Type 2M
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3971G>C
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G1324A
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Yes
|
France
|
French Network
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The patient is also hetrozygous for the More ...
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Type 2B
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3802C>G
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H1268D
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Yes
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|
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Type 2B
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3946G>A
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V1316M
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Yes
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Jamaica
|
UNC Chapel Hill
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Exon 28 sequenced, patient is hetrozygou 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
|
Montgomery
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VWF:RCo = 4-13, VWF:Ag = 13-36, normal c More ...
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Type 2A
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3940G>T
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V1314F
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Yes
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France
|
Meyer
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|
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Type 2B
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3939G>C
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W1313C
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Yes
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Ruggeri
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|
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Type 2B
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3925A>G
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I1309V
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Yes
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France
|
French Network
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|
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Type 2B
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3923G>C
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R1308P
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Yes
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Mazurier
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