Article
Toward a survey of somatic mutation of the NF1 gene in benign neurofibromas of patients with neurofibromatosis type 1.
American journal of human genetics - 1 Feb 2000
Eisenbarth I, Beyer K, Krone W, Assum G
Abstract excerpt
Neurofibromatosis type 1 (NF1), a common autosomal dominant disorder caused by mutations of the NF1 gene, is characterized by multiple neurofibromas, pigmentation anomalies, and a variety of other possible complications, including an increased risk of malignant neoplasias. Tumorigenesis in NF1 is believed to follow the two-hit hypothesis postulated for tumor-suppressor genes. Loss of heterozygosity (LOH) has been...
Topics
- Adult
- Alleles
- Codon, Terminator
- Female
- Gene Frequency
- Genetic Variation
- Humans
- Loss of Heterozygosity
- Male
- Middle Aged
- Molecular Sequence Data
- Mutation
- Neurofibromatosis 1
- Neurofibromin 1
- Peptide Fragments
- Phenotype
- Point Mutation
- Polymorphism, Genetic