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Comments |
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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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Turkey
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Peake
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Southern blotting suggests deletion ~8.5 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 3
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Not Determined
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Null Allele
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No
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India
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Federici / Mannucci
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Deletion associated with inhibitory anti 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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Germany
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Schneppenheim
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The patient was heterozygous for a parti More ...
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Type 3
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Exon 18 deletion
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?
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?
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Poland
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Schneppenheim
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4 index patients are homozygous for Delt More ...
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Type 3
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Exon 18 deletion
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?
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?
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Italy
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Schneppenheim
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1 index patient is heterozygous for Delt More ...
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Type 3
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988dupA
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S330KfsX4
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No
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Netherlands
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van Heerde
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Homozygous mutation in two brothers (VWF More ...
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Type 1
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971G>A
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R324Q
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No
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Turkey
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Peake
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Family was supplied by Dr. J. Ingerslev, More ...
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Type 3
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970C>T
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R324X
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?
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Germany
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Schneppenheim
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Nonsense mutation in the prosequence; re More ...
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Type 3
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893_894insG
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M299YfsX4
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No
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China
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Hongli Wang
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Mutation found in a heterozygous state i More ...
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Type 3
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874+1G>A
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Not Determined
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No
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Turkey
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Schneppenheim
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In silico analysis suggests that the mut 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 1
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8412insTCCCC
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C2804fs
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No
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Canada
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Lillicrap
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Type 3
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8411G>A
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C2804Y
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No
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India
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Federici/Mannucci
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Patient homozygous for the candidate mis More ...
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Type 2A
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8402C>A
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A2801D
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No
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France
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French Network
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Both patients, homozygous for the mutati More ...
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Type 2M
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8341C>T
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P2781S
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No
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Mexico
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Peñaloza R.
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VWF:RCo 5% VWF:FVIII 117% VWF:Ag 23% Blo More ...
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Type 1
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8327C>T
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P2776L
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No
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France
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C. Mazurier
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Type 2A
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8318G>C
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C2773S
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Yes
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Netherlands
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Bertina / Eikenboom
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Patient 1 VWF:Ag = 1.07 IU/ml. Type 2A s More ...
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Type 2A
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8317T>C
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C2773R
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Yes
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Germany/Sweden
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Schneppenheim
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VWD subtype IID according to old nomencl More ...
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Type 2A
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8316delC
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S2772fs
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Yes
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Germany
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Schneppenheim
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Frameshift mutation del C at 8316; subty More ...
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