Eleven novel mutations in the NF2 tumour suppressor gene

Hum Genet. 1995 May;95(5):572-4. doi: 10.1007/BF00223872.

Abstract

Eleven novel mutations were identified in the NF2 tumour suppressor gene in a panel of British NF2 patients. Screening was performed using a combination of heteroduplex and single-strand conformation polymorphism analysis on polymerase chain reaction amplified material.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • DNA / analysis
  • DNA / chemistry
  • Genes, Neurofibromatosis 2 / genetics*
  • Germ-Line Mutation*
  • Humans
  • Molecular Sequence Data
  • Neurofibromatosis 2 / genetics*
  • Nucleic Acid Heteroduplexes / analysis
  • Polymerase Chain Reaction
  • Polymorphism, Single-Stranded Conformational
  • Repetitive Sequences, Nucleic Acid

Substances

  • Nucleic Acid Heteroduplexes
  • DNA