Splicing mutation causes infantile Sandhoff disease

Am J Med Genet. 1998 Jan 23;75(3):330-3.
No abstract available

Publication types

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

MeSH terms

  • Alternative Splicing / genetics*
  • Blotting, Northern
  • DNA / blood
  • DNA / isolation & purification
  • Fatal Outcome
  • Female
  • Humans
  • Infant
  • Mutation / genetics*
  • Pedigree
  • RNA / blood
  • RNA / isolation & purification
  • Sandhoff Disease / enzymology
  • Sandhoff Disease / genetics*
  • beta-N-Acetylhexosaminidases / genetics

Substances

  • RNA
  • DNA
  • beta-N-Acetylhexosaminidases