KEGG   VARIANT: 8813v1
Entry
8813v1                      Variant                                
Name
DPM1 deficiency
Type
Loss of function
Gene
DPM1  dolichyl-phosphate mannosyltransferase subunit 1, catalytic [KO:K00721]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 603503
Network
nt06015  N-Glycan biosynthesis
Disease
H00118  Congenital disorders of glycosylation type I
Reference
PMID:10642597
  Authors
Kim S, Westphal V, Srikrishna G, Mehta DP, Peterson S, Filiano J, Karnes PS, Patterson MC, Freeze HH
  Title
Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie)
  Journal
J Clin Invest 105:191-8 (2000)
DOI:10.1172/JCI7302
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