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 |
