Novel compound heterozygous mutations of the SACS gene in autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Department of Neurology, Aomori Central Prefectural Hospital, Higashitsukurimichi, Aomori 030-8553, Japan. rie haga@med.pref.aomori.jp
Rie
R
Haga
Yasuo
Y
Miki
Yukihisa
Y
Funamizu
Tomoya
T
Kon
Chieko
C
Suzuki
Tatsuya
T
Ueno
Haruo
H
Nishijima
Akira
A
Arai
Masahiko
M
Tomiyama
Haruo
H
Shimazaki
Yoshihisa
Y
Takiyama
Masayuki
M
Baba
D018389:Codon, Nonsense / Q000235:genetics / Q000502:physiology; D005091:Exons / Q000235:genetics; D006360:Heat-Shock Proteins / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009128:Muscle Spasticity / Q000235:genetics*; D009154:Mutation / Q000235:genetics; D009460:Neurologic Examination; D020754:Spinocerebellar Ataxias / Q000151:congenital* / Q000235:genetics
D018389:Codon, Nonsense; D006360:Heat-Shock Proteins; C404403:SACS protein, human