Segmental neurofibromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF1) gene
β Scribed by Tinschert, Sigrid; Naumann, Ilka; Stegmann, Elisabeth; Buske, Annegret; Kaufmann, Dieter; Thiel, Gundula; Jenne, Dieter E
- Book ID
- 110024987
- Publisher
- Nature Publishing Group
- Year
- 2000
- Tongue
- English
- Weight
- 163 KB
- Volume
- 8
- Category
- Article
- ISSN
- 1018-4813
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The gene responsible for von Recklinghausen neurofibromatosis (NF1) has recently been identified, and several point mutations and deletions have been described. The availability of intron-exon boundaries of several exons of the NF1 gene facilitates the search for mutations in affected patients. We h
## 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