A germline missense mutation in COQ6 is associated with susceptibility to familial schwannomatosis

PURPOSE: Schwannomatosis, a subtype of neurofibromatosis, is characterized by multiple benign, nonvestibular, nonintradermal schwannomas. Although the tumor suppressor SMARCB1 gene has been frequently identified as the underlying genetic cause of half of familial and ~10% of sporadic schwannomatosis...

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Detalles Bibliográficos
Autores principales: Zhang, Keqiang, Lin, Jia-Wei, Wang, Jinhui, Wu, Xiwei, Gao, Hanlin, Hsieh, Yi-Chen, Hwu, Peter, Liu, Yun-Ru, Su, Leila, Chiou, Hung-Yi, Wang, Daidong, Yuan, Yate-Ching, Whang-Peng, Jacqueline, Chiu, Wen-Ta, Yen, Yun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2014
Materias:
Brief Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4189385/
https://www.ncbi.nlm.nih.gov/pubmed/24763291
http://dx.doi.org/10.1038/gim.2014.39

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