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

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