KEGG   VARIANT: 29940v1
Entry
29940v1                      Variant                               
Name
DSE mutation
Gene
DSE  dermatan sulfate epimerase [KO:K01794]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 605942
Network
nt06029  Glycosaminoglycan biosynthesis
Disease
H02246  Ehlers-Danlos syndrome musculocontractural type
Reference
PMID:23704329
  Authors
Muller T, Mizumoto S, Suresh I, Komatsu Y, Vodopiutz J, Dundar M, Straub V, Lingenhel A, Melmer A, Lechner S, Zschocke J, Sugahara K, Janecke AR
  Title
Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural Ehlers-Danlos syndrome.
  Journal
Hum Mol Genet 22:3761-72 (2013)
DOI:10.1093/hmg/ddt227
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