Gene: [05q32/GLRA1] glycine receptor, alpha 1; startle disease/hyperekplexia (stiff man syndrome; Kok disease; MIM:149400); [STHE ]

REL

GEM:0Xp2/GLRA2; 04q32/GLRB.

REF

LOC "Baker E &: Genomics, 22, 491-493, 1994
MUT "Brune W &: AJHG, 58, 989-997, 1996
MUT "Elmslie FV &: J Med Genet, 33, 435-436, 1996
CLO,SEQ "Grenningloh G &: EMBO J, 9, 771-776, 1990
MUT "Milani N &: AJHG, 58, 420-422, 1996
MUT "Rees MI &: Hum Mol Genet, 3, N12, 2175-2179, 1994
LOC,PAT "Ryan SG &: Ann Neurol, 31, 663-668, 1992
MUT "Schorderet DF &: Hum Mol Genet, 3, N7, 1201-1201, 1994
MUT "Shiang R &: Ann Neurol, 38, 85-91, 1995
CLO,SEQ,MUT,PAT "Shiang R &: Nature Genet, 5, 351-358, 1993

SWI

SWISSPROT: P23415

KEY

aac, neu, mem, recp, sign

CLA

coding, basic

LOC

05 q32

MIM

MIM: 138491

SYN

STHE

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