Article
Two NF1 mutations: frameshift in the GAP-related domain, and loss of two codons toward the 3' end of the gene.
Human mutation - 1 Jan 1994
Abernathy C R, Colman S D, Kousseff B G, Wallace M R
Abstract excerpt
Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant disorders, and is due to mutations within the NF1 gene on chromosome 17q11.2. Only the middle 400 amino acids of the associated protein (neurofibromin) have a known function, comprising a GTPase-activating-protein (GAP) d...
Topics
- Adolescent
- Alleles
- Base Sequence
- Child
- Chromosomes, Human, Pair 17
- DNA Mutational Analysis
- DNA Primers
- Female
- Frameshift Mutation
- GTPase-Activating Proteins
- Genes, Neurofibromatosis 1
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Neurofibromatosis 1
- Neurofibromin 1
- Nucleic Acid Conformation