Six novel mutations in the NF2 tumor suppressor gene
| Autor: | J L Sarasa, Angel Pestaña, M.E. Kusak, J.M. de Campos, M J Bello, Jesús Vaquero, Juan A. Rey, Paola E. Leone, Marta Mendiola |
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| Rok vydání: | 1998 |
| Předmět: |
Chromosome Aberrations
Cancer Research Neurofibromin 2 Tumor suppressor gene Membrane Proteins Biology medicine.disease_cause Frameshift mutation Exon Oncology Mutation medicine Cancer research Missense mutation Cyclin-dependent kinase 8 Humans Genes Tumor Suppressor Carcinogenesis Gene Polymorphism Single-Stranded Conformational Heteroduplex |
| Zdroj: | International journal of oncology. 12(4) |
| ISSN: | 1019-6439 |
| Popis: | Six novel mutations were identified in the NF2 tumor suppressor gene in a panel of meningiomas and neurinomas. Screening was performed using a combination of single-strand conformation polymorphism and heteroduplex analyses on polymerase chain reaction-amplified DNA from tumors and matched peripheral blood lymphocytes. Mutations involved exons 2, 7, 11 and 12, and corresponded to three frameshift, one nonsense, one missense and one polymorphism. |
| Databáze: | OpenAIRE |
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