Retinitis pigmentosa and ataxia caused by a mutation in the gene for the alpha-tocopherol-transfer protein

N Engl J Med. 1996 Dec 5;335(23):1770-1. doi: 10.1056/NEJM199612053352315.
No abstract available

Publication types

  • Letter

MeSH terms

  • Ataxia / genetics*
  • Carrier Proteins / genetics*
  • Humans
  • Mutation
  • Retinitis Pigmentosa / drug therapy
  • Retinitis Pigmentosa / genetics*
  • Vitamin E / therapeutic use
  • Vitamin E Deficiency / genetics

Substances

  • Carrier Proteins
  • alpha-tocopherol transfer protein
  • Vitamin E