Article
On unequal allelic expression of the neurofibromin gene in neurofibromatosis type 1.
Human molecular genetics - 1 Aug 1995
Hoffmeyer S, Assum G, Griesser J, Kaufmann D, Nürnberg P, Krone W
Abstract excerpt
The autosomal dominantly inherited disease neurofibromatosis type 1 (NF1) is caused by mutations of a large gene comprising 59 exons, which code for a protein with 2818 amino acids called neurofibromin. Employing an expressed polymorphic site in exon 5 of the neurofibromin gene, the expression of its alleles was analysed quantitatively by scanning radioactive RT-PCR fragments of this exon prepared from the RNA of...
Topics
- Alleles
- Base Sequence
- DNA Primers
- Gene Expression
- Genes, Neurofibromatosis 1
- Humans
- Molecular Sequence Data
- Mutation
- Neurofibromatosis 1
- Neurofibromin 1
- Polymerase Chain Reaction