Donor splice site mutation in intron 5 of the HEXA gene in a Turkish infant with Tay-Sachs disease

Hum Mutat. 1995;5(2):186-7. doi: 10.1002/humu.1380050216.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Consanguinity
  • Family Health
  • Female
  • Guanine
  • Hexosaminidase A
  • Homozygote
  • Humans
  • Infant
  • Introns*
  • Male
  • Pedigree
  • Point Mutation*
  • Polymorphism, Single-Stranded Conformational
  • RNA Splicing / genetics*
  • Tay-Sachs Disease / epidemiology
  • Tay-Sachs Disease / genetics*
  • Turkey / epidemiology
  • beta-N-Acetylhexosaminidases / genetics*

Substances

  • Guanine
  • Hexosaminidase A
  • beta-N-Acetylhexosaminidases