Startle disease in an Italian family by mutation (K276E): The alpha-subunit of the inhibiting glycine receptor

Hum Mutat. 1997;9(2):185-7. doi: 10.1002/(SICI)1098-1004(1997)9:2<185::AID-HUMU14>3.0.CO;2-Z.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosomes, Human, Pair 5
  • Exons
  • Humans
  • Italy
  • Muscle Hypertonia / genetics*
  • Nervous System Diseases / genetics*
  • Point Mutation*
  • Receptors, Glycine / genetics*
  • Reflex, Startle / genetics*
  • Sequence Analysis

Substances

  • Receptors, Glycine

Grants and funding