A novel mutation (Gln266-->His) in the alpha 1 subunit of the inhibitory glycine-receptor gene (GLRA1) in hereditary hyperekplexia.
Milani
N
N
Dalprá
L
L
del Prete
A
A
Zanini
R
R
Larizza
L
L
D000595:Amino Acid Sequence; D001483:Base Sequence; D002895:Chromosomes, Human, Pair 5; D005260:Female; D005808:Genes, Recessive; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D007558:Italy; D008297:Male; D008969:Molecular Sequence Data; D009422:Nervous System Diseases / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics; D018009:Receptors, Glycine / Q000737:chemistry / Q000235:genetics*; D013216:Reflex, Startle / Q000235:genetics*
D018009:Receptors, Glycine