A novel mutation (Gln266-->His) in the alpha 1 subunit of the inhibitory glycine-receptor gene (GLRA1) in hereditary hyperekplexia

Am J Hum Genet. 1996 Feb;58(2):420-2.
No abstract available

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Chromosomes, Human, Pair 5
  • Female
  • Genes, Recessive
  • Heterozygote
  • Homozygote
  • Humans
  • Infant, Newborn
  • Italy
  • Male
  • Molecular Sequence Data
  • Nervous System Diseases / genetics*
  • Pedigree
  • Point Mutation / genetics
  • Receptors, Glycine / chemistry
  • Receptors, Glycine / genetics*
  • Reflex, Startle / genetics*

Substances

  • Receptors, Glycine