KEGG   VARIANT: 22845v1
Entry
22845v1                      Variant                               
Name
DOLK deficiency
Type
Loss of function
Gene
DOLK  dolichol kinase [KO:K00902]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 610746
Network
nt06015  N-Glycan biosynthesis
Disease
H00118  Congenital disorders of glycosylation type I
Reference
PMID:17273964
  Authors
Kranz C, Jungeblut C, Denecke J, Erlekotte A, Sohlbach C, Debus V, Kehl HG, Harms E, Reith A, Reichel S, Grobe H, Hammersen G, Schwarzer U, Marquardt T
  Title
A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy.
  Journal
Am J Hum Genet 80:433-40 (2007)
DOI:10.1086/512130
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