Identification of three neurofibromatosis type 2 (NF2) gene mutations in vestibular schwannomas.

doi:10.1007/BF00218846

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Article

Identification of three neurofibromatosis type 2 (NF2) gene mutations in vestibular schwannomas.

Human genetics - 1 Jan 1996

Sainz J, Figueroa K, Baser M E, Pulst S M

Abstract excerpt

Vestibular schwannomas (VSs) are common benign tumors of Schwann cell origin and are frequently found in patients with neurofibromatosis type 2 (NF2). We analyzed 15 sporadic VSs for mutations in the tumors, two of which contained loss of heterozygosity (LOH). One of the tumors contained a novel...

Topics

Chromosome Deletion
Ear Neoplasms
Exons
Genes, Neurofibromatosis 2
Humans
Mutation
Neurilemmoma
Polymerase Chain Reaction
Sequence Deletion
Transcription, Genetic
Vestibule, Labyrinth

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