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....

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:BMC Med Genet
Prif Awduron: Liu, Zhen, Zhou, Jingcheng, Li, Liang, Yi, Zhiqiang, Lu, Runchun, Li, Chunwei, Gong, Kan
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BioMed Central 2020
Pynciau:
Case Report
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC7528461/
https://ncbi.nlm.nih.gov/pubmed/33004005
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-020-01126-7
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