KEGG   VARIANT: 3074v1
Entry
3074v1                      Variant                                
Name
HEXB deficiency
Gene
HEXB  hexosaminidase subunit beta [KO:K12373]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 606873
Network
nt06014  Sphingolipid degradation
Disease
H02017  Sandhoff disease
Reference
PMID:2921040
  Authors
Bikker H, van den Berg FM, Wolterman RA, de Vijlder JJ, Bolhuis PA
  Title
Demonstration of a Sandhoff disease-associated autosomal 50-kb deletion by field inversion gel electrophoresis.
  Journal
Hum Genet 81:287-8 (1989)
DOI:10.1007/BF00279006
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