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Schema
>
LiteratureReference
>
Entries
Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing
Show undefined attributes
author
[Person:4549366] Timal, S
[Person:4549395] Hoischen, A
[Person:4420043] Lehle, L
[Person:4420015] Adamowicz, M
[Person:4549326] Huijben, K
[Person:4420011] Sykut-Cegielska, J
[Person:4549406] Paprocka, J
[Person:4549320] Jamroz, E
[Person:4549399] van Spronsen, FJ
[Person:3656464] Körner, C
[Person:4549377] Gilissen, C
[Person:4549331] Rodenburg, RJ
[Person:4549359] Eidhof, I
[Person:4549313] Van den Heuvel, L
[Person:3656461] Thiel, C
[Person:200270] Wevers, RA
[Person:4420027] Morava, E
[Person:4549384] Veltman, J
[Person:4419880] Lefeber, DJ
created
[InstanceEdit:4549381] Jassal, B, 2013-09-12
dbId
4549391
displayName
Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing
journal
Hum. Mol. Genet.
pages
4151-61
pubMedIdentifier
22492991
schemaClass
LiteratureReference
title
Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing
url
http://www.ncbi.nlm.nih.gov/pubmed/22492991
volume
21
year
2012
Referrals
(literatureReference)
[Pathway:R-HSA-4549356] Defective DPAGT1 causes CDG-1j, CMSTA2
[FailedReaction:R-HSA-4549334] Defective DPAGT1 does not transfer GlcNAc to DOLP
[Pathway:R-HSA-5609974] Defective PGM1 causes PGM1-CDG
[FailedReaction:R-HSA-5609939] Defective PGM1 does not isomerise G6P to G1P
(author)
[Person:4549406] Paprocka, J
[Person:3656461] Thiel, C
[Person:4420027] Morava, E
[Person:4549331] Rodenburg, RJ
[Person:4549395] Hoischen, A
[Person:4549366] Timal, S
[Person:4549399] van Spronsen, FJ
[Person:4549384] Veltman, J
[Person:200270] Wevers, RA
[Person:4549320] Jamroz, E
[Person:4420015] Adamowicz, M
[Person:4419880] Lefeber, DJ
[Person:4549326] Huijben, K
[Person:4549359] Eidhof, I
[Person:4420011] Sykut-Cegielska, J
[Person:4420043] Lehle, L
[Person:3656464] Körner, C
[Person:4549313] Van den Heuvel, L
[Person:4549377] Gilissen, C
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