Article
Neurofibromatosis type 1 (NF1): a protein truncation assay yielding identification of mutations in 73% of patients.
Journal of medical genetics - 1 Oct 1998
Park V M, Pivnick E K
Abstract excerpt
Neurofibromatosis type 1 (NF1) is caused by mutations in a tumour suppressor gene located on chromosome 17 (17q11.2). Disease causing mutations are dispersed throughout the gene, which spans 350 kilobases and includes 59 exons. A common consequence of NF1 mutations is introduction of a premature...
Topics
- Adult
- Base Sequence
- Child
- Child, Preschool
- Chromosome Mapping
- Chromosomes, Human, Pair 17
- DNA Mutational Analysis
- DNA, Complementary
- Exons
- Female
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Neurofibromatosis 1
- Neurofibromin 1
- Protein Biosynthesis
- Proteins