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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Detaylı Bibliyografya
Yayımlandı:BMC Med Genet
Asıl Yazarlar: Liu, Zhen, Zhou, Jingcheng, Li, Liang, Yi, Zhiqiang, Lu, Runchun, Li, Chunwei, Gong, Kan
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BioMed Central 2020
Konular:
Case Report
Online Erişim: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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