Article
Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients.
Science (New York, N.Y.) - 13 Jul 1990
Wallace M R, Marchuk D A, Andersen L B, Letcher R, Odeh H M, Saulino A M, Fountain J W, Brereton A, Nicholson J, Mitchell A L
Abstract excerpt
Von Recklinghausen neurofibromatosis (NF1) is a common autosomal dominant disorder characterized by abnormalities in multiple tissues derived from the neural crest. No reliable cellular phenotypic marker has been identified, which has hampered direct efforts to identify the gene. The chromosome location of the NF1 gene has been previously mapped genetically to 17q11.2, and data from two NF1 patients with balanced...
Topics
- Adult
- Amino Acid Sequence
- Animals
- Base Sequence
- Blotting, Northern
- Blotting, Southern
- Cell Line
- Cloning, Molecular
- DNA, Neoplasm
- Gene Expression Regulation, Neoplastic