Startle disease in an Italian family by mutation (K276E): The alpha-subunit of the inhibiting glycine receptor.
Seri
M
M
Laboratorio di Genetica Molecolare, Istituto G. Gaslini, Genova, Italy.
Bolino
A
A
Galietta
L J
LJ
Lerone
M
M
Silengo
M
M
Romeo
G
G
D002895:Chromosomes, Human, Pair 5; D005091:Exons; D006801:Humans; D007558:Italy; D009122:Muscle Hypertonia / Q000235:genetics*; D009422:Nervous System Diseases / Q000235:genetics*; D017354:Point Mutation; D018009:Receptors, Glycine / Q000235:genetics*; D013216:Reflex, Startle / Q000235:genetics*; D017421:Sequence Analysis
D018009:Receptors, Glycine