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Clinical and Genetic Investigation of a Multi-generational Chinese Family Afflicted with Von Hippel-Lindau Disease

BACKGROUND: Von Hippel-Lindau (VHL) disease is a hereditary tumor disorder caused by mutations or deletions of the VHL gene. Few studies have documented the clinical phenotype and genetic basis of the occurrence of VHL disease in China. This study armed to present clinical and genetic analyses of VH...

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Detalles Bibliográficos
Autores principales: Zhang, Jingyao, Ma, Jie, Du, Xiaoyun, Wu, Dapeng, Ai, Hong, Bai, Jigang, Dong, Shunbin, Yang, Qinling, Qu, Kai, Lyu, Yi, Valenzuela, Robert K, Liu, Chang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4837816/
https://www.ncbi.nlm.nih.gov/pubmed/25563310
http://dx.doi.org/10.4103/0366-6999.147802