Genetic characterization and protein stability analysis of a Chinese family with Von Hippel-Lindau disease

• Published in: Chinese medical journal Vol. 126; no. 19; pp. 3690 - 3693
• Main Authors: Gao, Yong, Huang, Yan-ping, Tu, Xiang-an, Luo, Dao-sheng, Wang, Dao-hu, Qiu, Shao-peng, Xiang, Peng, Li, Wei-qiang, Jan, Rohozinski, Zhang, Yuan-yuan, Sun, Xiang-zhou, Deng, Chun-hua
• Format: Journal Article
• Language: English
• Published: China Reproductive Medicine Center, The Key Laboratory for Reproductive Medicine of Guangdong Province, First Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong 510080, China(Gao Y)%Shanghai Institute of Andrology, Renji Hospital Affiliated Shanghai Jiao Tong University School of Medicine, Shanghai 200001, China%Department of Urology, First Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong 510080, China%Department of Urology, Dongguan People's Hospital, Dongguan, Guangdong 523059, China%Center for Stem Cell Biology and Tissue Engineering, The Key Laboratory for Stem Cells and Tissue Engineering, Ministry of Education, Sun Yat-sen University, Guangzhou, Guangdong 510080, China 2013
• Subjects: Adult; China; Female; Humans; Male; Middle Aged; Mutation, Missense; PCR产物; Protein Stability; von Hippel-Lindau Disease - genetics; Von Hippel-Lindau Tumor Suppressor Protein - chemistry; Von Hippel-Lindau Tumor Suppressor Protein - genetics; 中国; 基因突变; 家庭成员; 稳定性分析; 蛋白质; 遗传性疾病; 遗传特性; genetic test,protein stability analysis; renal cell carcinoma; Von Hippel-Lindau disease

Background Von HippeI-Lindau disease （VHL）,a heritable autosomal dominant disease characterized by neoplasia in multiple organ systems,has rarely been reported in Asia.We genetically investigated a unique Chinese family with VHL disease and performed an analysis of the VHL protein stability.Methods...