## Abstract Neurofibromatosis Type 1 (NF1) is a frequent tumor suppressor gene disorder characterized by multiple benign tumors and high risk of malignancy. Internal tumor burden is a major diseaseβassociated manifestation and can be most adequately assessed by magnetic resonance imaging of the who
Neurophysiologic investigations in symptomatic and asymptomatic neurofibromatosis type I (NF1) patients
β Scribed by R. Gouider; A. Mrabet; M. Kchouk; L. Lasram; A.Ben Osman; M. Azaiz
- Book ID
- 115869841
- Publisher
- Elsevier Science
- Year
- 1993
- Tongue
- English
- Weight
- 193 KB
- Volume
- 87
- Category
- Article
- ISSN
- 0013-4694
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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,
4 from patients with Von Hippel-Lindau syndrome (m). The diagnosis was confirmed in each NF1 patient and conformed to internationally agreed criteria (Riccardi and Eichner, 1986;Mulvihill and Parry, 1987). The diagnosis of MEN 2 and VHL was similarly con-