Retinitis pigmentosa and ataxia caused by a mutation in the gene for the alpha-tocopherol-transfer protein.
Yokota
T
T
Shiojiri
T
T
Gotoda
T
T
Arai
H
H
D001259:Ataxia / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D006801:Humans; D009154:Mutation; D012174:Retinitis Pigmentosa / Q000188:drug therapy / Q000235:genetics*; D014810:Vitamin E / Q000627:therapeutic use; D014811:Vitamin E Deficiency / Q000235:genetics
D002352:Carrier Proteins; C017763:alpha-tocopherol transfer protein; D014810:Vitamin E