Mutation type and position varies between mosaic and inherited NF2 and correlates with disease severity

Clin Genet. 2013 Jun;83(6):594-5. doi: 10.1111/cge.12007. Epub 2012 Sep 18.
No abstract available

Publication types

  • Letter

MeSH terms

  • DNA Mutational Analysis
  • Frameshift Mutation
  • Gene Deletion
  • Genetic Predisposition to Disease / genetics*
  • Genotype
  • Humans
  • Mutation*
  • Mutation, Missense
  • Neurofibromatosis 2 / genetics*
  • Neurofibromatosis 2 / pathology
  • Neurofibromin 2 / genetics*
  • Phenotype
  • RNA Splice Sites / genetics
  • Severity of Illness Index

Substances

  • Neurofibromin 2
  • RNA Splice Sites