Clinical and Molecular Characterization of NF1 Patients: Single-Center Experience of 32 Patients From China

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 economi...

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Detalhes bibliográficos
Publicado no:Medicine (Baltimore)
Main Authors: Zhu, Lude, Zhang, Yunfeng, Tong, Hanxing, Shao, Minhua, Gu, Yong, Du, Xufeng, Wang, Peiru, Shi, Lei, Zhang, Linglin, Bi, Mingye, Wang, Xiuli, Zhang, Guolong
Formato: Artigo
Idioma:Inglês
Publicado em: Wolters Kluwer Health 2016
Assuntos:
4000
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4998908/
https://ncbi.nlm.nih.gov/pubmed/26962827
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MD.0000000000003043
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