A missense mutation in the neurofibromatosis 2 gene occurs in patients with mild and severe phenotypes.
作者信息
Scoles D R, Baser M E, Pulst S M
机构信息
Neurogenetics Laboratory, Burns and Allen Research Institute, Cedars-Sinai Medical Center, UCLA School of Medicine 90048, USA.
出版信息
Neurology. 1996 Aug;47(2):544-6. doi: 10.1212/wnl.47.2.544.
PMID:8757035
Abstract
We identified a missense mutation (T185-->C, Phe62-->Ser) in the neurofibromatosis 2 (NF2) gene in a family with mild and severe NF2 phenotypes. This mutation was previously reported in an unrelated family in which all affected individuals had mild phenotypes. These data demonstrate a lack of correlation between NF2 genotype and NF2 phenotype for this mutation.
摘要
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