A mutation of HEXB gene in Sandhoff disease presenting as motor neuron disease

Neurol India. 2010 Nov-Dec;58(6):950-1. doi: 10.4103/0028-3886.73755.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • DNA Mutational Analysis / methods
  • Female
  • Hexosaminidase B / genetics*
  • Humans
  • Motor Neuron Disease / physiopathology*
  • Mutation / genetics*
  • Sandhoff Disease / diagnosis*
  • Sandhoff Disease / genetics*
  • Young Adult

Substances

  • Hexosaminidase B