A novel nonsense mutation in the ABC1 gene causes a severe syringomyelia-like phenotype of Tangier disease

Stephan Züchner, Anne D. Sperfeld, Jan Senderek, Bernd Sellhaus, Clemens Oliver Hanemann, J. Michael Schröder*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Original languageEnglish
Pages (from-to)920-927
Number of pages0
JournalBrain
Volume126
Issue number0
DOIs
Publication statusPublished - 2003

Keywords

  • Tangier disease
  • ABC1 gene
  • peripheral neuropathy
  • syringomyelia
  • high-density lipoprotein

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