Identification of a VHL gene mutation in atypical Von Hippel-Lindau syndrome: genotype–phenotype correlation and gene therapy perspective

BACKGROUND: Classical von Hippel Lindau (VHL) disease/syndrome includes CNS hemangioblastoma, renal or pancreatic cysts, pheochromocytoma, renal carcinoma and exodermic cystadenoma. The syndrome is caused by mutation of VHL tumor suppressor gene. The most prevalent mutations are present in VHL syndr...

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Detalles Bibliográficos
Autores principales: Tong, Dali, Zhang, Yao, Jiang, Jun, Bi, Gang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Primary Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8684656/
https://www.ncbi.nlm.nih.gov/pubmed/34923986
http://dx.doi.org/10.1186/s12935-021-02386-w

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