Gene: [12q241/SCA2] ataxin 2; spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2; MIM:183090); [ATX2 ]
|
PAT |
In patients with spinocerebellar ataxia 2 Pulst-1996 identified a (CAG)n repeat located in the 5-prime end of the coding region of the SCA2 gene." |
|
REF |
LIN,LOC "Gispert S &: Nature Genet, 4, 295-299, 1993 LIN,LOC "Hernandez A &: Genomics, 25, 433-435, 1995 LIN,LOC "Ihara T &: Jpn J Hum Genet, 39, 305-313, 1994 CLO,SEQ,GEN "Imbert G &: Nature Genet, 14, 285-291, 1996 CLO,SEQ,STR,LOC,MUT "Pulst S-M &: Nature Genet, 14, 269-276, 1996 CLO,SEQ,GEN "Sanpei K &: Nature Genet, 14, 277-284, 1996 CLO "Trottier Y &: Nature, 378, 403-406, 1995 |
|
KEY |
neu, devd, tri |
|
CLA |
coding, basic |
|
LOC |
12 q24.1 |
|
MIM |
MIM: 601517 |
|
SYN |
ATX2 |
