A novel mutation (Gln266-->His) in the alpha 1 subunit of the inhibitory glycine-receptor gene (GLRA1) in hereditary hyperekplexia.
Copyright policy )A novel mutation (Gln266-->His) in the alpha 1 subunit of the inhibitory glycine-receptor gene (GLRA1) in hereditary hyperekplexia.
- University of Milan Italy
Male, Heterozygote, Reflex, Startle, Base Sequence, Homozygote, Molecular Sequence Data, Infant, Newborn, Genes, Recessive, Pedigree, Receptors, Glycine, Italy, Chromosomes, Human, Pair 5, Humans, Point Mutation, Female, Pedigree; Homozygote; Startle Reaction; Humans; Receptors, Glycine; Nervous System Diseases; Infant, Newborn; Amino Acid Sequence; Italy; Chromosomes, Human, Pair 5; Base Sequence; Heterozygote; Point Mutation; Molecular Sequence Data; Female; Genes, Recessive; Male, Amino Acid Sequence, Nervous System Diseases
Male, Heterozygote, Reflex, Startle, Base Sequence, Homozygote, Molecular Sequence Data, Infant, Newborn, Genes, Recessive, Pedigree, Receptors, Glycine, Italy, Chromosomes, Human, Pair 5, Humans, Point Mutation, Female, Pedigree; Homozygote; Startle Reaction; Humans; Receptors, Glycine; Nervous System Diseases; Infant, Newborn; Amino Acid Sequence; Italy; Chromosomes, Human, Pair 5; Base Sequence; Heterozygote; Point Mutation; Molecular Sequence Data; Female; Genes, Recessive; Male, Amino Acid Sequence, Nervous System Diseases
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