title: New mutation in the non-gigantic exon of SACS in Japanese siblings.
authors.forename: Yuhei
authors.initials: Y
authors.lastname: Takado
authors.forename: Kenju
authors.initials: K
authors.lastname: Hara
authors.forename: Takayoshi
authors.initials: T
authors.lastname: Shimohata
authors.forename: Susumu
authors.initials: S
authors.lastname: Tokiguchi
authors.forename: Osamu
authors.initials: O
authors.lastname: Onodera
authors.forename: Masatoyo
authors.initials: M
authors.lastname: Nishizawa
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution / Q000235:genetics; D001284:Atrophy; D002531:Cerebellum / Q000473:pathology; D002869:Chromosome Aberrations; D003241:Consanguinity; D005091:Exons / Q000235:genetics*; D005260:Female; D020234:Gait Ataxia / Q000175:diagnosis / Q000235:genetics*; D005808:Genes, Recessive; D006360:Heat-Shock Proteins / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007930:Leucine / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010649:Phenylalanine / Q000235:genetics; D017422:Sequence Analysis, DNA; D035781:Siblings
chemical_list: D006360:Heat-Shock Proteins; C404403:SACS protein, human; D010649:Phenylalanine; D007930:Leucine