Ataxia with vitamin E deficiency with a mutation in a phospholipid transfer protein gene.
Kono
Satoshi
S
Otsuji
Akiko
A
Hattori
Hiroaki
H
Shirakawa
Kentaro
K
Suzuki
Hitoshi
H
Miyajima
Hiroaki
H
D017668:Age of Onset; D019943:Amino Acid Substitution / Q000235:genetics; D001483:Base Sequence / Q000235:genetics; D002531:Cerebellum / Q000378:metabolism / Q000503:physiopathology; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D040582:Inheritance Patterns / Q000235:genetics; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D049294:Phospholipid Transfer Proteins / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology; D013132:Spinocerebellar Degenerations / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D014202:Tremor / Q000235:genetics; D014810:Vitamin E / Q000032:analysis / Q000097:blood; D014811:Vitamin E Deficiency / Q000235:genetics*
C493430:PLTP protein, human; D049294:Phospholipid Transfer Proteins; D014810:Vitamin E