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Details on Person Specific factor IX mRNA and protein features favor drug-induced readthrough over recurrent nonsense mutations
| Class:Id | LiteratureReference:9672822 |
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| _displayName | Specific factor IX mRNA and protein features favor drug-induced readthrough over recurrent nonsense mutations |
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| _timestamp | 2020-01-03 02:10:58 |
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| author | [Person:9666373] Branchini, Alessio
[Person:9672821] Ferrarese, Mattia
[Person:9670878] Campioni, Matteo
[Person:9661690] Castaman, Giancarlo
[Person:9670903] Mari, Rosella
[Person:9666358] Bernardi, Francesco
[Person:9666372] Pinotti, Mirko |
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| created | [InstanceEdit:9672820] Shamovsky, Veronica, 2020-01-03 |
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| journal | Blood |
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| pages | 2303-2307 |
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| pubMedIdentifier | 28196793 |
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| title | Specific factor IX mRNA and protein features favor drug-induced readthrough over recurrent nonsense mutations |
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| volume | 129 |
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| year | 2017 |
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| (literatureReference) | [Summation:9670891] In healthy individuals, the coagulation factor IX (FIX) is s...
[Summation:9673226] A deficiency or dysfunction of factor IX (FIX) caused by mut...
[CandidateSet:9670852] Non-secretable F9 variant [endoplasmic reticulum lumen] [Homo sapiens]
[EntityWithAccessionedSequence:9672831] F9(29-461) R384* [endoplasmic reticulum lumen] [Homo sapiens]
[EntityWithAccessionedSequence:9672848] F9(29-461) Y330* [endoplasmic reticulum lumen] [Homo sapiens]
[FailedReaction:9670888] F9 variant is not secreted [Homo sapiens] |
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No pathways have been reviewed or authored by Specific factor IX mRNA and protein features favor drug-induced readthrough over recurrent nonsense mutations (9672822)
