KEGG   VARIANT: 2683v1
Entry
2683v1                      Variant                                
Name
B4GALT1 deficiency
Type
Loss of function
Gene
B4GALT1  beta-1,4-galactosyltransferase 1 [KO:K07966]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 137060
Network
nt06015  N-Glycan biosynthesis
Disease
H00119  Congenital disorders of glycosylation type II
Reference
PMID:11901181
  Authors
Hansske B, Thiel C, Lubke T, Hasilik M, Honing S, Peters V, Heidemann PH, Hoffmann GF, Berger EG, von Figura K, Korner C
  Title
Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId.
  Journal
J Clin Invest 109:725-33 (2002)
DOI:10.1172/JCI14010
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