Severe Tangier disease with a novel ABCA1 gene mutation

Neurology. 2008 Oct 28;71(18):1454-5. doi: 10.1212/01.wnl.0000327870.29639.20.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • ATP Binding Cassette Transporter 1
  • ATP-Binding Cassette Transporters / genetics*
  • Cholesterol / metabolism
  • DNA Mutational Analysis / methods
  • Humans
  • Male
  • Middle Aged
  • Mutation / genetics*
  • Sural Nerve / metabolism
  • Sural Nerve / pathology
  • Tangier Disease / genetics*
  • Tangier Disease / pathology

Substances

  • ABCA1 protein, human
  • ATP Binding Cassette Transporter 1
  • ATP-Binding Cassette Transporters
  • Cholesterol