Article
Mosaicism in sporadic neurofibromatosis 2 patients.
Human molecular genetics - 1 Dec 1998
Kluwe L, Mautner V F
Abstract excerpt
More than half of neurofibromatosis 2 (NF2) patients represent de novo mutations which could have occurred at either pre-zygotic or post-zygotic stages. A post-zygotic mutation can result in mosaicism. In four sporadic NF2 patients, we found NF2 mutations in only a portion of corresponding leukoc...
Topics
- Adolescent
- Adult
- Aged
- Base Sequence
- DNA
- DNA Mutational Analysis
- Exons
- Genes, Neurofibromatosis 2
- Genotype
- Humans
- Leukocytes
- Middle Aged
- Mosaicism
- Mutation
- Neurofibromatosis 2
- Phenotype