title: Mutations in the glycine receptor alpha1 subunit (GLRA1) gene in hereditary hyperekplexia pedigrees: evidence for non-penetrance of mutation Y279C.
authors.forename: J B
authors.initials: JB
authors.lastname: Kwok
authors.forename: S
authors.initials: S
authors.lastname: Raskin
authors.forename: G
authors.initials: G
authors.lastname: Morgan
authors.forename: S A
authors.initials: SA
authors.lastname: Antoniuk
authors.forename: I
authors.initials: I
authors.lastname: Bruk
authors.forename: P R
authors.initials: PR
authors.lastname: Schofield
mesh_terms: D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009123:Muscle Hypotonia / Q000235:genetics*; D020125:Mutation, Missense; D010375:Pedigree; D019683:Penetrance; D018009:Receptors, Glycine / Q000235:genetics*; D013216:Reflex, Startle / Q000235:genetics*
chemical_list: C000657604:GLRA1 protein, human; D018009:Receptors, Glycine