Article
Frequency and distribution of NF2 mutations in schwannomas.
Genes, chromosomes & cancer - 1 Sept 1996
Jacoby L B, MacCollin M, Barone R, Ramesh V, Gusella J F
Abstract excerpt
Sporadic and inherited schwannomas were scanned for the nature, frequency, and distribution of mutations in the NF2 locus encoding the merlin tumor suppressor protein on 22q. Of 58 tumors, 47% displayed loss of heterozygosity for NF2, leaving a total of 89 NF2 alleles to be examined. Pathogenic alterations were identified in 62 of these alleles, including 36 frameshifts with premature termination, 14 nonsense...
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