KEGG   VARIANT: 11285v1
Entry
11285v1                      Variant                               
Name
B4GALT7 mutation
Gene
B4GALT7  beta-1,4-galactosyltransferase 7 [KO:K00733]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 604327
Network
nt06029  Glycosaminoglycan biosynthesis
Disease
H02239  Ehlers-Danlos syndrome, spondylodysplastic type
Reference
PMID:10506123
  Authors
Okajima T, Fukumoto S, Furukawa K, Urano T
  Title
Molecular basis for the progeroid variant of Ehlers-Danlos syndrome. Identification and characterization of two mutations in galactosyltransferase I  gene.
  Journal
J Biol Chem 274:28841-4 (1999)
DOI:10.1074/jbc.274.41.28841
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