[Mutation analysis of NF2 gene and clinical investigation in a Chinese family with neurofibromatosis type II].

doi:10.3760/cma.j.issn.1003-9406.2010.06.020

Article

[Mutation analysis of NF2 gene and clinical investigation in a Chinese family with neurofibromatosis type II].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Dec 2010

Cui Ying-xia, Xia Xin-yi, Huang Ting-ting, Wei Li, Fan Xiao-bo, Yao Bing, Ge Yi-feng, Li Xiao-jun, Huang Yu-feng

Abstract excerpt

OBJECTIVE: To report a heterozygous RNA-splicing mutation (IVS3+ 3A to C) of NF2 gene in a Chinese family with autosomal dominant neurofibromatosis type II and investigate the relationship between the genotype and phenotype. METHODS: The proband with bilateral vestibular schwannomas underwent gamma knife radiosurgery two years earlier. DNA of blood samples from all affected individuals, suspected individuals and...

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[Mutation analysis of NF2 gene and clinical investigation in a Chinese family with neurofibromatosis type II].

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