Mutations in the glycine receptor alpha1 subunit (GLRA1) gene in hereditary hyperekplexia pedigrees: evidence for non-penetrance of mutation Y279C.
Kwok
J B
JB
Raskin
S
S
Morgan
G
G
Antoniuk
S A
SA
Bruk
I
I
Schofield
P R
PR
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*
C000657604:GLRA1 protein, human; D018009:Receptors, Glycine