Article
NF1 gene mutations in Japanese with neurofibromatosis 1 (NF1).
Biochemical and biophysical research communications - 17 Jul 1995
Hatta N, Horiuchi T, Watanabe I, Kobayashi Y, Shirakata Y, Ohtsuka H, Minami T, Ueda K, Kokoroishi T, Fujita S
Abstract excerpt
Neurofibromatosis 1 (NF1) is an autosomal dominant disease characterized by abnormalities in multiple tissues derived from the neural crest. We analysed 50 unrelated Japanese patients for NF1 mutations by using polymerase chain reaction (PCR)-single strand conformation polymorphism (SSCP) analysis for exons 28 to 36. Here, we demonstrate a single base pair (bp) insertional mutations in exon 31 in one patient...
Topics
- Adenine
- Adult
- Base Sequence
- DNA, Complementary
- Exons
- Female
- Guanine
- Humans
- Introns
- Japan
- Molecular Sequence Data
- Mutation