Toward a Survey of Somatic Mutation of the NF1 Gene in Benign Neurofibromas of Patients with Neurofibromatosis Type 1
✍ Scribed by Ingrid Eisenbarth; Kim Beyer; Winfrid Krone; Günter Assum
- Book ID
- 117853146
- Publisher
- American Society of Human Genetics
- Year
- 2000
- Tongue
- English
- Weight
- 199 KB
- Volume
- 66
- Category
- Article
- ISSN
- 0002-9297
- DOI
- 10.1086/302747
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## 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
Neurofibromatosis type 1 (NF1), an autosomal dominantly-inherited disorder, is mainly characterized by the occurrence of multiple dermal neurofibromas and is caused by mutations in the NF1 gene, a tumor suppressor gene. The variable expressivity of the disease and the lack of a genotype/phenotype co