Article
Identification of NF1 mutations in both alleles of a dermal neurofibroma.
Nature genetics - 1 Sept 1996
Sawada S, Florell S, Purandare S M, Ota M, Stephens K, Viskochil D
Abstract excerpt
A hallmark clinical feature of neurofibromatosis 1 (NF1) is multiple dermal neurofibromas, benign tumours that typically appear in early adolescence and increase in numbers throughout life. The pathogenesis of these tumours is not known. One domain of the NF1 gene product, neurofibromin, stimulat...
Topics
- Alleles
- Amino Acid Sequence
- Base Sequence
- DNA Mutational Analysis
- DNA, Neoplasm
- Humans
- Molecular Sequence Data
- Neurofibromatosis 1
- Neurofibromin 1
- Proteins
- Sequence Deletion