Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene
β Scribed by M. Upadhyaya; Michael J. Osborn; Julie Maynard; Mee Rhan Kim; Fuyuhiko Tamanoi; David N. Cooper
- Publisher
- Springer
- Year
- 1996
- Tongue
- English
- Weight
- 36 KB
- Volume
- 99
- Category
- Article
- ISSN
- 0340-6717
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We report a 21-year-old male with symptomatic optic glioma who does not fulfill the diagnosis of neurofibromatosis 1 (NF1) according to standard NIH criteria. Analysis of the NF1 gene revealed a recurrent mutation in exon 37 (C6792A or Y2264X). This nonsense mutation causes skipping of exon 37 durin
## Communicated by Haig H. Kazazian One of the main features of neurofibromatosis type 1 (NF1) is benign neurofibromas, 10-20% of which become transformed into malignant peripheral nerve sheath tumors (MPNSTs). The molecular basis of NF1 tumorigenesis is, however, still unclear. Ninety-one tumors
In the present study the entire NF1 coding region was analyzed for mutations in 132 unrelated Italian NF1 patients. Using PTT, SSCP, and DNA sequencing, we found 8 novel mutations. Clinical diagnosis of NF1 was established according to the NIH consensus criteria. We detected 59 truncated fragments,