Benign neurofibromas in type 1 neurofibromatosis (NF1) show somatic deletions of the NF1 gene
β Scribed by Colman, Steven D.; Williams, Charles A.; Wallace, Margaret R.
- Book ID
- 109917931
- Publisher
- Nature Publishing Group
- Year
- 1995
- Tongue
- English
- Weight
- 541 KB
- Volume
- 11
- Category
- Article
- ISSN
- 1061-4036
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Neurofibromatosis type 1 (NF1), a common autosomal dominant neurogenetic disorder affecting 1 in 4000 individuals worldwide, results from functional inactivation of the 17q11.2-located NF1 gene. Plexiform neurofibroma (PNF) is a congenital benign tumour present in 30-50% of NF1 patients, which in ab
## 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
## Communicated by Michael Goossens A total of 500 unselected unrelated neurofibromatosis 1 (NF1) patients were screened for deletions of the NF1 gene. After excluding 67 patients with known intragenic NF1 mutations, the remaining 433 were genotyped using six intragenic and one distal microsatellit