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Comments |
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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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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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4092delAC
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1364 frameshift to terminus
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No
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India
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Federici/Mannucci
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Patient compound heterozygous with mutat More ...
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Type 3
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4414insC
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1472 frameshift to terminus
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No
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India
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Federici/Mannucci
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Patient compound heterozygous with mutat More ...
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Type 3
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4635delG
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1545 frameshift to terminus
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No
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Germany
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Schneppenheim
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Type 1
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4637-4645del9
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1546-1548del3
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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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4886delG
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1629 frameshift to terminus
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?
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Germany
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Schneppenheim
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Patient was heterozygous.
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Type 3
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4971insC
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1657 frameshift to terminus
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No
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Sweden
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1 heterozygous patient in 1 type 3 famil More ...
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Type 3
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6182delT
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2061 frameshift to terminus
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No
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Italy
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Federici/Mannucci
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Patient homozygous for the deletion and More ...
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Type 3
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7130insC
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2377 frameshift to terminus
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No
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India
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Federici/Mannucci
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Two patients homozygous for the insertio More ...
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Type 3
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7137insT
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2379 frameshift to terminus
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No
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India
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Federici/Mannucci
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Patient homozygous for the insertion and More ...
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Type 3
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7294delGT
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2431 frameshift to terminus
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No
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India
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Federici/Mannucci
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Patient compound heterozygous with mutat More ...
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Type 3
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7674insC
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2558 frameshift to terminus
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No
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Iran
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Federici/Mannucci
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Patient homozygous for the insertion and More ...
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Type 3
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7683delT
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2561 frameshift to terminus
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No
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Iran
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Federici/Mannucci
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Patient homozygous for the deletion and More ...
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Type 3
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8241del9
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2748del3
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No
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Italy
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Federici/Mannucci
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Patient homozygous for the in-frame dele More ...
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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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Type 2M
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4309G>A
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A1437T
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No
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Spain
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Casana
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Type 2B
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4382C>A
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A1461D
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No
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USA
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Robert Montgomery
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Patient's plasma VWF bound to platelets More ...
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Type 2B
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4382C>T
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A1461V
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Yes
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Type 2A
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4499C>A
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A1500E
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Yes
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China
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Jiangsu Institute of Hematology
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The structure of recombinant A1500E VWF More ...
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