Intronic mutation of the VHL gene associated with central nervous system hemangioblastomas in two Chinese families with Von Hippel–Lindau disease: case report

BACKGROUND: Central nervous system (CNS) hemangioblastomas are the most frequent cause of mortality in patients with Von Hippel–Lindau (VHL) disease, an autosomal dominant genetic disease resulting from germline mutations in the VHL tumor suppressor gene, with most mutations occurring in the exons....

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Detalles Bibliográficos
Autores principales: Liu, Zhen, Zhou, Jingcheng, Li, Liang, Yi, Zhiqiang, Lu, Runchun, Li, Chunwei, Gong, Kan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7528461/
https://www.ncbi.nlm.nih.gov/pubmed/33004005
http://dx.doi.org/10.1186/s12881-020-01126-7

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