KEGG   VARIANT: 64131v1
Entry
64131v1                      Variant                               
Name
XYLT1 mutation
Gene
XYLT1  xylosyltransferase 1 [KO:K00771]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 608124
Network
nt06029  Glycosaminoglycan biosynthesis
Disease
H00494  Desbuquois syndrome
Reference
  Authors
Bui C, Huber C, Tuysuz B, Alanay Y, Bole-Feysot C, Leroy JG, Mortier G, Nitschke P, Munnich A, Cormier-Daire V
  Title
XYLT1 mutations in Desbuquois dysplasia type 2.
  Journal
Am J Hum Genet 94:405-14 (2014)
DOI:10.1016/j.ajhg.2014.01.020
Reference
  Authors
Schon S, Schulz V, Prante C, Hendig D, Szliska C, Kuhn J, Kleesiek K, Gotting C
  Title
Polymorphisms in the xylosyltransferase genes cause higher serum XT-I activity in patients with pseudoxanthoma elasticum (PXE) and are involved in a severe disease course.
  Journal
J Med Genet 43:745-9 (2006)
DOI:10.1136/jmg.2006.040972
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