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Details on Person Clustered F8 missense mutations cause hemophilia A by combined alteration of splicing and protein biosynthesis and activity
| Class:Id | LiteratureReference:9666367 |
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| _displayName | Clustered F8 missense mutations cause hemophilia A by combined alteration of splicing and protein biosynthesis and activity |
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| _timestamp | 2019-11-05 01:42:00 |
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| author | [Person:9666341] Donadon, Irving
[Person:9666346] McVey, John H
[Person:9662319] Garagiola, Isabella
[Person:9666373] Branchini, Alessio
[Person:9666354] Mortarino, Mimosa
[Person:9662334] Peyvandi, Flora
[Person:9666358] Bernardi, Francesco
[Person:9666372] Pinotti, Mirko |
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| created | [InstanceEdit:9666357] Shamovsky, Veronica, 2019-11-05 |
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| journal | Haematologica |
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| pages | 344-350 |
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| pubMedIdentifier | 29170251 |
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| title | Clustered F8 missense mutations cause hemophilia A by combined alteration of splicing and protein biosynthesis and activity |
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| volume | 103 |
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| year | 2018 |
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| (literatureReference) | [FailedReaction:9661980] F8 variant is not secreted [Homo sapiens]
[Summation:9663100] Hemophilia A (HA) is an X-linked, recessive coagulation diso...
[CandidateSet:9661970] Non-secretable F8 variant [endoplasmic reticulum lumen] [Homo sapiens]
[EntityWithAccessionedSequence:9666350] F8 G2013R [endoplasmic reticulum lumen] [Homo sapiens]
[EntityWithAccessionedSequence:9666355] F8 R2016W [endoplasmic reticulum lumen] [Homo sapiens] |
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