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Details on Person Clinical and molecular characterization of the first adult congenital disorder of glycosylation (CDG) type Ic patient

Class:IdLiteratureReference:449898
_displayNameClinical and molecular characterization of the first adult congenital disorder of glycosylation (CDG) type Ic patient
_timestamp2009-12-09 09:58:12
author[Person:201393] Sun, L
[Person:449232] Eklund, EA
[Person:449895] Van Hove, JL
[Person:449265] Freeze, HH
[Person:449900] Thomas, JA
created[InstanceEdit:449893] Jassal, B, 2009-12-09
journalAm J Med Genet A
pages22-6
pubMedIdentifier16007612
titleClinical and molecular characterization of the first adult congenital disorder of glycosylation (CDG) type Ic patient
volume137
year2005
(literatureReference)[Reaction:446189] Addition of a second glucose to the N-glycan precursor by ALG8 [Homo sapiens]
[Reaction:446202] Addition of the first glucose to the N-glycan precursor by ALG6 [Homo sapiens]
[Pathway:4724289] Defective ALG6 causes CDG-1c [Homo sapiens]
[FailedReaction:4724291] Defective ALG6 does not add glucose to the N-glycan precursor [Homo sapiens]
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