Gene: [14q21/MJD] Machado-Joseph disease; spinocerebellar ataxia 3 (olivopontocerebellar ataxia 3); [SCA3 ]
CAG | Schols-1995 and Twist-1995 supported that Machado-Joseph disease and spinocerebellar ataxia 3 arise from the same locus." |
REF | PAT "Burt T &:
Neurology, 43, 1750-1752, 1993 MCH "Cancel G &: AJHG, 57, N4, 809-816, 1995 PAT "Goldberg-Stern H &: Neurology, 44, 1298-1301, 1994 POP "Hirayama K &: Acta Neurol Scand, 89, 1-22, 1994 MCH "Ikeda H &: Nature Genet, 13, 196-202, 1996 MCH "Ikeuchi T &: AJHG, 58, 730-733, 1996 PRO,SEQ,LOC,MCH "Kawaguchi Y &: Nature Genet, 8, 221-228, 1994 MCH "Kawakami H &: Nature Genet, 9, 344-345, 1995 MCH "Maruyama H &: Hum Mol Genet, 4, 807-812, 1995 MCH "Ranum LPW &: AJHG, 57, 603-608, 1995 PAT,MUT,CAG "Schols L &: Hum Mol Genet, 4, 1001-1005, 1995 LIN,LOC "Sequeiros J &: Genomics, 21, 645-648, 1994 LIN,LOC "St George-Hyslop P &: AJHG, 55, 120-125, 1994 LIN,LOC,CAG "Stevanin G &: AJHG, 57, 1247-1250, 1995 MCH "Takiyama Y &: Hum Mol Genet, 4, 1137-1146, 1995 LIN,LOC "Takiyama Y &: Nature Genet, 4, 300-304, 1993 LIN,LOC,CAG "Twist EC &: J Med Genet, 32, 25-31, 1995 |
SWI | SWISSPROT: P54252 |
KEY | tri, neu |
CLA | coding, basic |
LOC | 14 q21 |
MIM | MIM: 109150 |
SYN | SCA3 |