A missense mutation in the neurofibromatosis 2 gene occurs in patients with mild and severe phenotypes

被引：23

作者：

Scoles, DR

Baser, ME

Pulst, SM

机构：

[1] UNIV CALIF LOS ANGELES,CEDARS SINAI MED CTR,SCH MED,DIV NEUROL,NEUROGENET LAB,LOS ANGELES,CA 90048

[2] UNIV CALIF LOS ANGELES,CEDARS SINAI MED CTR,SCH MED,BURNS & ALLEN RES INST,DIV NEUROL,LOS ANGELES,CA 90048

来源：

NEUROLOGY | 1996年 / 47卷 / 02期

关键词：

D O I：

10.1212/WNL.47.2.544

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

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页码：544 / 546

页数：3

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