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Details on Person Single synonymous mutation in factor IX alters protein properties and underlies haemophilia B

Class:IdLiteratureReference:9670892
_displayNameSingle synonymous mutation in factor IX alters protein properties and underlies haemophilia B
_timestamp2019-12-17 05:24:31
author[Person:9670922] Simhadri, Vijaya L
[Person:9670863] Hamasaki-Katagiri, Nobuko
[Person:9670851] Lin, Brian C
[Person:9670896] Hunt, Ryan
[Person:9670829] Jha, Sujata
[Person:9670817] Tseng, Sandra C
[Person:9670820] Wu, Andrew
[Person:9670838] Bentley, Amber A
[Person:9670901] Zichel, Ran
[Person:9670870] Lu, Qi
[Person:9670859] Zhu, Lily
[Person:9670808] Freedberg, Darón I
[Person:158396] Monroe, DM
[Person:9666348] Sauna, Zuben E
[Person:9670845] Peters, Robert
[Person:8984886] Komar, Anton A
[Person:9666364] Kimchi-Sarfaty, Chava
created[InstanceEdit:9670828] Shamovsky, Veronica, 2019-12-17
journalJ. Med. Genet.
pages338-345
pubMedIdentifier28007939
titleSingle synonymous mutation in factor IX alters protein properties and underlies haemophilia B
volume54
year2017
(literatureReference)[EntityWithAccessionedSequence:9670810] F9(29-461) V153V [endoplasmic reticulum lumen] [Homo sapiens]
[CandidateSet:9670852] Non-secretable F9 variant [endoplasmic reticulum lumen] [Homo sapiens]
[FailedReaction:9670888] F9 variant is not secreted [Homo sapiens]
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