A second, large deletion in the HEXB gene in a patient with infantile Sandhoff disease

Hum Mol Genet. 1995 Apr;4(4):777-80. doi: 10.1093/hmg/4.4.777.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Base Sequence
  • DNA Primers
  • DNA, Complementary
  • Female
  • Heterozygote
  • Hexosaminidase B
  • Homozygote
  • Humans
  • Infant
  • Male
  • Molecular Sequence Data
  • Sandhoff Disease / genetics*
  • Sequence Deletion*
  • beta-N-Acetylhexosaminidases / genetics*

Substances

  • DNA Primers
  • DNA, Complementary
  • Hexosaminidase B
  • beta-N-Acetylhexosaminidases