Novel human pathological mutations. Gene symbol: HEXA. Disease: Tay-Sachs disease

Hum Genet. 2009 Aug;126(2):329. doi: 10.1007/s00439-009-0717-7.
No abstract available

MeSH terms

  • Base Sequence
  • Codon
  • Humans
  • Molecular Sequence Data
  • Mutation*
  • Nucleotides / genetics*
  • Sequence Analysis, DNA
  • Tay-Sachs Disease / genetics*
  • beta-Hexosaminidase alpha Chain / genetics*

Substances

  • Codon
  • Nucleotides
  • HEXA protein, human
  • beta-Hexosaminidase alpha Chain

Associated data

  • GENBANK/HM080090