KEGG   VARIANT: 113189v1
Entry
113189v1                      Variant                              
Name
CHST14 mutation
Gene
CHST14  carbohydrate sulfotransferase 14 [KO:K08105]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 608429
Network
nt06029  Glycosaminoglycan biosynthesis
Disease
H02246  Ehlers-Danlos syndrome musculocontractural type
Reference
  Authors
Janecke AR, Li B, Boehm M, Krabichler B, Rohrbach M, Muller T, Fuchs I, Golas G, Katagiri Y, Ziegler SG, Gahl WA, Wilnai Y, Zoppi N, Geller HM, Giunta C, Slavotinek A, Steinmann B
  Title
The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations.
  Journal
Am J Med Genet A 170A:103-15 (2016)
DOI:10.1002/ajmg.a.37383
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