|
HYPEREKPLEXIA 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Allosteric and hyperekplexic mutant phenotypes investigated on an α1 glycine receptor transmembrane structure.
|
25730860 |
2015 |
|
HYPEREKPLEXIA 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms.
|
24108130 |
2013 |
|
HYPEREKPLEXIA 1
|
|
0.800 |
GeneticVariation
|
CLINVAR |
New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms.
|
24108130 |
2013 |
|
HYPEREKPLEXIA 1
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia.
|
20631190 |
2010 |
|
HYPEREKPLEXIA 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel GLRA1 missense mutation (P250T) in dominant hyperekplexia defines an intracellular determinant of glycine receptor channel gating.
|
9920650 |
1999 |
|
HYPEREKPLEXIA 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Hyperekplexia phenotype due to compound heterozygosity for GLRA1 gene mutations.
|
10514101 |
1999 |
|
HYPEREKPLEXIA 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of intracellular and extracellular domains mediating signal transduction in the inhibitory glycine receptor chloride channel.
|
9009272 |
1997 |
|
HYPEREKPLEXIA 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Startle disease in an Italian family by mutation (K276E): The alpha-subunit of the inhibiting glycine receptor.
|
9067762 |
1997 |
|
HYPEREKPLEXIA 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel mutation (Gln266-->His) in the alpha 1 subunit of the inhibitory glycine-receptor gene (GLRA1) in hereditary hyperekplexia.
|
8571969 |
1996 |
|
HYPEREKPLEXIA 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Analysis of GLRA1 in hereditary and sporadic hyperekplexia: a novel mutation in a family cosegregating for hyperekplexia and spastic paraparesis.
|
8733061 |
1996 |
|
HYPEREKPLEXIA 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutational analysis of familial and sporadic hyperekplexia.
|
7611730 |
1995 |
|
HYPEREKPLEXIA 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
An additional family with Startle disease and a G1192A mutation at the alpha 1 subunit of the inhibitory glycine receptor gene.
|
7981700 |
1994 |
|
HYPEREKPLEXIA 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Evidence for recessive as well as dominant forms of startle disease (hyperekplexia) caused by mutations in the alpha 1 subunit of the inhibitory glycine receptor.
|
7881416 |
1994 |
|
HYPEREKPLEXIA 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Decreased agonist affinity and chloride conductance of mutant glycine receptors associated with human hereditary hyperekplexia.
|
7925268 |
1994 |
|
HYPEREKPLEXIA 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia.
|
8298642 |
1993 |