New mutation in the non-gigantic exon of SACS in Japanese siblings.
Takado
Yuhei
Y
Hara
Kenju
K
Shimohata
Takayoshi
T
Tokiguchi
Susumu
S
Onodera
Osamu
O
Nishizawa
Masatoyo
M
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
D006360:Heat-Shock Proteins; C404403:SACS protein, human; D010649:Phenylalanine; D007930:Leucine