Article
Clinical and Molecular Characterization of NF1 Patients: Single-Center Experience of 32 Patients From China.
Medicine - 1 Mar 2016
Zhu Lude, Zhang Yunfeng, Tong Hanxing, Shao Minhua, Gu Yong, Du Xufeng, Wang Peiru, Shi Lei, Zhang Linglin, Bi Mingye, Wang Xiuli, Zhang Guolong
Abstract excerpt
Neurofibromatosis type 1 (NF1) is a hereditary disorder caused by mutations in the NF1 gene. Detecting mutation in NF1 is hindered by the gene's large size, the lack of mutation hotspots, and the presence of pseudogenes.Our goal was to establish a sensitive, feasible, and comparatively economical protocol to detect NF1 mutations using blood samples.We developed a method to screen patients for mutations....
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