KEGG   VARIANT: 10559v1
Entry
10559v1                      Variant                               
Name
SLC35A1 mutation
Type
Loss of function
Gene
SLC35A1  solute carrier family 35 member A1 [KO:K15272]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 605634
Network
nt06015  N-Glycan biosynthesis
Disease
H00119  Congenital disorders of glycosylation type II
Reference
PMID:15576474
  Authors
Martinez-Duncker I, Dupre T, Piller V, Piller F, Candelier JJ, Trichet C, Tchernia G, Oriol R, Mollicone R
  Title
Genetic complementation reveals a novel human congenital disorder of glycosylation of type II, due to inactivation of the Golgi CMP-sialic acid transporter.
  Journal
Blood 105:2671-6 (2005)
DOI:10.1182/blood-2004-09-3509
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