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Comments |
Type 3 (Type 1)
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100C>G
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R34G
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No
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Turkey
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Peake
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Heterozygotes for this mutation had a ty More ...
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Type 3
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100C>T
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R34X
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No
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Spain
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Vidal
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Homozygous mutation.
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Type 2N
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1071C>A
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Y357X
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No
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France
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Mazurier
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Type 3
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1093C>T
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R365X
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No
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Iran / Italy
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Federici / Mannucci
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One patient (Iran) homozygous, and one ( More ...
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Type 3
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1093C>T
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R365X
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No
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France
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Meyer
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Type 1
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1109+2T>C
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N/A
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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 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 spl More ...
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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 muta More ...
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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 More ...
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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 More ...
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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 mut More ...
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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. More ...
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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 ristocet More ...
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Type 3
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139G>C
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D47H
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No
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Iran
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Federici / Mannucci
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Patient homozygous for the candidate mis More ...
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Type 1
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147C>A
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S49R
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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 1
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-1522del CATTGTTTCCTTT
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N/A
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No
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Canada
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Lillicrap
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Type 1
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-1522del CATTGTTTCCTTT
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N/A
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No
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EU
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MCMDM-1VWD
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101 control samples were screened for th More ...
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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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Type 1
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1534-3C>A
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L512PfsX11
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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 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 1 More ...
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