The p.P56S mutation in the VAPB gene is not due to a single founder: the first European case

Clin Genet. 2010 Mar;77(3):302-3. doi: 10.1111/j.1399-0004.2009.01319.x.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Female
  • Humans
  • Male
  • Muscle Weakness / genetics*
  • Pedigree
  • Point Mutation*
  • Vesicular Transport Proteins / genetics*

Substances

  • VAPB protein, human
  • Vesicular Transport Proteins