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Comments |
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10
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108
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Type 3
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1110-1G>A
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N/A
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No
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Iran
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Federici / Mannucci
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Patient homozygous for the potential splice site mutation (located at position 7 More ...
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Baronciani et al., 2000
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10
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108
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Type 3
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1117C>T
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R373X
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No
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India
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Federici / Mannucci
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Patient homozygous for the nonsense mutation and of consanguineous descent.
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Baronciani et al., 2000
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10
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40
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Type 3
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1131G>T
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W377C
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?
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Germany
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Schneppenheim
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Candidate missense mutation; the patient was homozygous.
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Schneppenheim et al., 1994
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11
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Type 2A
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1212ins6 (AATCCC)
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F404insNP
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Yes
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Sweden
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Holmberg
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Patient also compound heterozygote for a null allele
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Holmberg et al, 1998
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11
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Type 3
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1280T>A
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I427N
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No
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France
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Mazurier
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The propositus is homozygous for the mutation. His parents are heterozygous.
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12
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10
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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 ristocetin and low botrocetin binding to platele More ...
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12
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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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England
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Mazurier
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Patient heterozygous for this deletion. The second gene defect was not identifie More ...
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Armitage & Rizza, 1979
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13
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200
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Type 1
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1533+15G>A
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Not Determined
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No
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Spain
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Vidal
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14
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202
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Type 3
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1534-3C>A
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L512PfsX11
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No
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Italy
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Bertina / Eikenboom
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Acceptor slice site mutation 3' intron 13 (11/24 C>A). Platelet mRNA was studied More ...
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Eikenboom et al., 1998
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14
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2
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Type 1
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1728G>T
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M576I
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No
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Canada
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Lillicrap
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James et al., 2007
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