Cargando…
Genotype-phenotype correlations in Chinese von Hippel–Lindau disease patients
von Hippel–Lindau (VHL) disease is caused by mutations in the VHL gene and demonstrates marked phenotypic variability. Genotype-phenotype correlations in Chinese VHL patients have been unclear. To establish genotype-phenotype correlations in Chinese VHL patients, we collected VHL mutations and pheno...
Autores principales: | Peng, Shuanghe, Shepard, Matthew J., Wang, Jiangyi, Li, Teng, Ning, Xianghui, Cai, Lin, Zhuang, Zhengping, Gong, Kan |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Impact Journals LLC
2017
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5503545/ https://www.ncbi.nlm.nih.gov/pubmed/28388566 http://dx.doi.org/10.18632/oncotarget.16594 |
Ejemplares similares
-
AB181. Telomere shortening is associated with genetic anticipation in Chinese Von Hippel-Lindau disease families
por: Ning, Xianghui, et al.
Publicado: (2015) -
AB110. The first prenatal diagnosis of von Hippel-Lindau syndrome in Chinese mainland
por: Peng, Shuanghe, et al.
Publicado: (2015) -
Intra-Familial Phenotypic Heterogeneity and Telomere Abnormality in von Hippel- Lindau Disease: Implications for Personalized Surveillance Plan and Pathogenesis of VHL-Associated Tumors
por: Wang, Jiangyi, et al.
Publicado: (2019) -
Frequent Mutations of VHL Gene and the Clinical Phenotypes in the Largest Chinese Cohort With Von Hippel–Lindau Disease
por: Hong, Baoan, et al.
Publicado: (2019) -
Novel genotype–phenotype correlations in five Chinese families with Von Hippel–Lindau disease
por: Liu, Qiuli, et al.
Publicado: (2018)