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Details on Person Human RFT1 deficiency leads to a disorder of N-linked glycosylation

Class:IdLiteratureReference:449289
_displayNameHuman RFT1 deficiency leads to a disorder of N-linked glycosylation
_timestamp2011-09-29 16:47:25
author[Person:449242] Haeuptle, MA
[Person:449269] Pujol, FM
[Person:449233] Neupert, C
[Person:449284] Winchester, B
[Person:449310] Kastaniotis, AJ
[Person:1426004] Aebi, M
[Person:449291] Hennet, T
created[InstanceEdit:449318] Jassal, B, 2009-12-02
journalAm J Hum Genet
modified[InstanceEdit:1614742] D'Eustachio, P, 2011-09-29
pages600-6
pubMedIdentifier18313027
titleHuman RFT1 deficiency leads to a disorder of N-linked glycosylation
volume82
year2008
(literatureReference)[Reaction:446212] Flipping of the N-glycan precursor to inside the ER [Homo sapiens]
[Pathway:4570571] Defective RFT1 causes CDG-1n [Homo sapiens]
[FailedReaction:4570573] Defective RFT1 does not flip the N-glycan precursor [Homo sapiens]
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