Article
Screening for large mutations of the NF2 gene.
Genes, chromosomes & cancer - 1 Apr 2005
Kluwe Lan, Nygren Anders O H, Errami Abdellatif, Heinrich Bianca, Matthies Cordula, Tatagiba Marcos, Mautner Victor
Abstract excerpt
Neurofibromatosis 2 (NF2) is a genetic disorder caused by mutational inactivation of the NF2 gene and is characterized by bilateral vestibular schwannomas, spinal tumors, and other benign tumors of the nervous system. Previously, we found intragenic NF2 mutations in 99 of 188 unrelated NF2 patients by exon-scanning-based methods. Tumor analysis of 22 de novo NF2 patients led to the identification of 12 additional...
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