Gene: [10q2/IOSCA] infantile onset spinocerebellar ataxia (autosomal recessive); spinocerebellar ataxia 8 (infantile, with sensory neuropathy); [SCA8 ]


REF

PAT "Koskinen T &: J Neurol Sci, 121, N1, 50-56, 1994
LOC,MAP "Nikali K &: Genomics, 39, N2, 185-191, 1997
LIN,LOC "Nikali K &: AJHG, 56, 1088-1095, 1995
MUT "Varilo T &: Genome Res, 6, N9, 870-875, 1996

KEY

neu, devd

CLA

unknown, basic

LOC

10 q23.3-24.1

MIM

MIM: 271245

SYN

SCA8

Смотрите также:

  • Gene: [06p23/SCA1] ataxin 1; spinocerebellar ataxia 1 (olivopontocerebellar atrophy 1; MIM:164400); [OPCA1 ]