Article
Distribution of 13 truncating mutations in the neurofibromatosis 1 gene.
Human molecular genetics - 1 Jun 1995
Heim R A, Kam-Morgan L N, Binnie C G, Corns D D, Cayouette M C, Farber R A, Aylsworth A S, Silverman L M, Luce M C
Abstract excerpt
Neurofibromatosis 1 (NF1) is a common genetic disorder characterized by abnormalities of tissues derived from the neural crest. To define germ-line mutations in the NF1 gene, we studied 20 patients with familial or sporadic cases of NF1 diagnosed clinically and one patient with only café-au-lait...
Topics
- Base Sequence
- Cell Line
- Child
- DNA Mutational Analysis
- DNA Primers
- Female
- Gene Expression Regulation, Neoplastic
- Genes, Neurofibromatosis 1
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Neurofibromin 1
- Polymorphism, Genetic
- Proteins