Frequent Mutations of VHL Gene and the Clinical Phenotypes in the Largest Chinese Cohort With Von Hippel–Lindau Disease

Von Hippel–Lindau (VHL) disease is a rare autosomal-dominant inherited tumor syndrome. We aimed to analyze the correlations between frequent VHL mutations and phenotypes in Chinese VHL families. We screened 540 patients from 187 unrelated Chinese VHL families for 19 frequent VHL mutations. The penet...

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Detalles Bibliográficos
Autores principales: Hong, Baoan, Ma, Kaifang, Zhou, Jingcheng, Zhang, Jiufeng, Wang, Jiangyi, Liu, Shengjie, Zhang, Zhongyuan, Cai, Lin, Zhang, Ning, Gong, Kan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6759728/
https://www.ncbi.nlm.nih.gov/pubmed/31620170
http://dx.doi.org/10.3389/fgene.2019.00867

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