Mutations in the glycine receptor α1 subunit (GLRA1) gene in hereditary hyperekplexia pedigrees: evidence for non-penetrance of mutation Y279C

פריטים דומים

• A novel mutation (Gln266-->His) in the alpha 1 subunit of the inhibitory glycine-receptor gene (GLRA1) in hereditary hyperekplexia.
  מאת: Milani, N., et al.
  יצא לאור: (1996)
• Analysis of GLRA1 in hereditary and sporadic hyperekplexia: a novel mutation in a family cosegregating for hyperekplexia and spastic paraparesis.
  מאת: Elmslie, F V, et al.
  יצא לאור: (1996)
• A GLRA1 null mutation in recessive hyperekplexia challenges the functional role of glycine receptors.
  מאת: Brune, W., et al.
  יצא לאור: (1996)
• Pathophysiological Mechanisms of Dominant and Recessive GLRA1 Mutations in Hyperekplexia
  מאת: Chung, Seo-Kyung, et al.
  יצא לאור: (2010)
• Novel GLRA1 Missense Mutation (P250T) in Dominant Hyperekplexia Defines an Intracellular Determinant of Glycine Receptor Channel Gating
  מאת: Saul, Brigitta, et al.
  יצא לאור: (1999)