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A novel mutation in the VHL gene in a Chinese family with von Hippel-Lindau disease

BACKGROUND: Von Hippel-Lindau (VHL) disease is an autosomal dominant inherited cancer syndrome, and VHL is identified as a tumor suppressor gene. The main objective of this study was to identify disease-causing mutations in a Chinese family affected with VHL disease. METHODS: Genomic DNA was extract...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:BMC Med Genet
Päätekijät: Wu, Xing, Chen, Lanlan, Zhang, Yixin, Xie, Hainan, Xue, Meirong, Wang, Yi, Huang, Houbin
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: BioMed Central 2018
Aiheet:
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC6258150/
https://ncbi.nlm.nih.gov/pubmed/30477447
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-018-0716-4
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