Article
Novel NF1 gene mutation in a Japanese patient with neurofibromatosis type 1 and a gastrointestinal stromal tumor.
Journal of gastroenterology - 1 Apr 2006
Nemoto Hiroshi, Tate Genshu, Schirinzi Annalisa, Suzuki Takao, Sasaya Shoji, Yoshizawa Yasuo, Midorikawa Takemasa, Mitsuya Toshiyuki, Dallapiccola Bruno, Sanada Yutaka
Abstract excerpt
Many mutations of the NF1 gene have been reported in patients with neurofibromatosis type 1 (NF1); however, there have been no documented NF1 gene mutations in Japanese NF1 patients. In the present study, we used the polymerase chain reaction (PCR) and DNA sequencing analysis to characterize the NF1 gene in a 53-year-old Japanese patient with NF1 who suffered from neurofibroma, pheochromocytoma, and...
Topics
- Female
- Gastrointestinal Stromal Tumors
- Genes, Neurofibromatosis 1
- Humans
- Immunohistochemistry
- Middle Aged
- Mutation
- Neurofibromatosis 1
- RNA, Neoplasm
- Reverse Transcriptase Polymerase Chain Reaction