Neurofibromatosis type 1 (NF1) is one of the most common dominantly inherited genetic diseases associated with the nervous system. Functional loss of the NF1 tumor suppressor is frequently associated with the generation of benign neurofibromas that can progress to malignancy. Recent evidence in gene
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Reconstitution of the NF1 GAP-related domain in NF1-deficient human Schwann cells
โ Scribed by Stacey L. Thomas; Gail D. Deadwyler; Jun Tang; Evan B. Stubbs Jr.; David Muir; Kelly K. Hiatt; D. Wade Clapp; George H. De Vries
- Book ID
- 116293419
- Publisher
- Elsevier Science
- Year
- 2006
- Tongue
- English
- Weight
- 521 KB
- Volume
- 348
- Category
- Article
- ISSN
- 0006-291X
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Communicated by Arthur L. Beaudet Neurofibromatosis type 1 ( N F l ) is one of the most common autosomal dominant disorders, and is due to mutations within the NFI gene on chromosome 17q11.2. Only the middle 400 amino acids of the associated protein (neurofibromin) have a known function, comprising