A 48-bp insertion between exon 13 and 14 of the HEXB gene causes infantile-onset Sandhoff disease

Hum Mutat. 1995;6(3):260-2. doi: 10.1002/humu.1380060313.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Exons
  • Hexosaminidase B
  • Humans
  • Infant
  • Male
  • Molecular Sequence Data
  • Sandhoff Disease / genetics*
  • beta-N-Acetylhexosaminidases / genetics*

Substances

  • Hexosaminidase B
  • beta-N-Acetylhexosaminidases