A missense mutation in the NF2 gene results in moderate and mild clinical phenotypes of neurofibromatosis type 2.

doi:10.1007/BF02265270

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Article

A missense mutation in the NF2 gene results in moderate and mild clinical phenotypes of neurofibromatosis type 2.

Human genetics - 1 Feb 1996

Kluwe L, Mautner V F

Abstract excerpt

Since the identification of the NF2 tumor suppressor gene in 1993, various mutations have been found in NF2-related tumors and in lymphocytes from NF2 patients. Most of the reported mutations result in truncated gene products. Missense mutations affecting the tumor suppressor are rare. These miss...

Topics

Adult
Base Sequence
DNA
DNA Mutational Analysis
Exons
Female
Genes, Neurofibromatosis 2
Hearing Loss
Humans
Male
Middle Aged
Molecular Sequence Data
Neurilemmoma
Neurofibromatosis 2
Pedigree
Phenotype
Point Mutation
Tinnitus

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