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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2016
Materias:
4000
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4998908/
https://www.ncbi.nlm.nih.gov/pubmed/26962827
http://dx.doi.org/10.1097/MD.0000000000003043

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