Sacsin-related ataxia caused by the novel nonsense mutation Arg4325X.
Yamamoto
Yoichi
Y
Nakamori
Masayuki
M
Konaka
Kuni
K
Nagano
Seiichi
S
Shimazaki
Haruo
H
Takiyama
Yoshihisa
Y
Sakoda
Saburo
S
D000328:Adult; D001259:Ataxia / Q000235:genetics* / Q000473:pathology; D001921:Brain / Q000473:pathology; D018389:Codon, Nonsense / Q000235:genetics*; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D006360:Heat-Shock Proteins / Q000235:genetics*; D006801:Humans; D008279:Magnetic Resonance Imaging; D010641:Phenotype
D018389:Codon, Nonsense; D006360:Heat-Shock Proteins; C404403:SACS protein, human; D004247:DNA