A GLRA1 null mutation in recessive hyperekplexia challenges the functional role of glycine receptors.

Antzeko izenburuak

• Novel GLRA1 Missense Mutation (P250T) in Dominant Hyperekplexia Defines an Intracellular Determinant of Glycine Receptor Channel Gating
  nork: Saul, Brigitta, et al.
  Argitaratua: (1999)
• Pathophysiological Mechanisms of Dominant and Recessive GLRA1 Mutations in Hyperekplexia
  nork: Chung, Seo-Kyung, et al.
  Argitaratua: (2010)
• Analysis of GLRA1 in hereditary and sporadic hyperekplexia: a novel mutation in a family cosegregating for hyperekplexia and spastic paraparesis.
  nork: Elmslie, F V, et al.
  Argitaratua: (1996)
• A novel mutation (Gln266-->His) in the alpha 1 subunit of the inhibitory glycine-receptor gene (GLRA1) in hereditary hyperekplexia.
  nork: Milani, N., et al.
  Argitaratua: (1996)
• Glycine Receptor Knock-In Mice and Hyperekplexia-Like Phenotypes: Comparisons with the Null Mutant
  nork: Findlay, Geoffrey S., et al.
  Argitaratua: (2003)