Article
Mutations of the neurofibromatosis type 2 gene and lack of the gene product in vestibular schwannomas.
Human molecular genetics - 1 Jun 1994
Sainz J, Huynh D P, Figueroa K, Ragge N K, Baser M E, Pulst S M
Abstract excerpt
Schwannomas are common tumors of the nervous system and are frequently found in patients with neurofibromatosis (NF) 2. Although loss of heterozygosity in NF2 tumors suggests that the NF2 gene functions as a tumor suppressor gene, the NF2 gene shows amino acid sequence homology to structural proteins in one of which dominantly acting mutations have been described. We performed a mutational analysis in 30...
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