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Comments |
Type 1
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55G>A
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G19R
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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 (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 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 3
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171C>A
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C57X
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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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191delG
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G64AfsX19
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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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212C>A
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S71X
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No
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China
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Jiangsu Institute of Hematology
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The parents of the patient were heterozy More ...
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Type 3
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253T>C
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S85P
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No
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Italy
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Federici / Mannucci
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Patient presents 3 mutations, the candid More ...
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Unclassified
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260A>C
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Y87S
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Yes
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USA
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Montgomery
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Type 3
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276delT
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F92LfsX11
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No
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Italy
|
Federici / Mannucci
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Patient compound heterozygous with mutat More ...
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Type 2N
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276_277insT
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D93X
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No
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France
|
French Network
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The patient was heterozygous for this mu More ...
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Type 3
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374-387del14
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G125fs
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No
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US
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Montgomery
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Found in a heterozygous state.
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Type 3
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375_376delGTinsC
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Y126TfsX49
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No
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Spain
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Vidal
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Homozygous mutation inherited in cis wit More ...
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Type 1
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385C>A
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L129M
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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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421G>A
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D141N
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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 3
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421G>T
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D141Y
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Yes
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Italy
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Federici / Mannucci
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Patient compound heterozygous with mutat More ...
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Type 1
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422A>G
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D141G
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No
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England
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UKHCDO
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Type 3
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449T>A
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L150E
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No
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Sweden
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1 heterozygote patient in 1 type 3 famil More ...
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Type 3
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449T>C
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L150P
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No
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Spain
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Vidal
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Compound heterozygous mutation found in More ...
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