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Three novel germ-line VHL mutations in Hungarian von Hippel-Lindau patients, including a nonsense mutation in a fifteen-year-old boy with renal cell carcinoma
BACKGROUND: Von Hippel-Lindau disease is an autosomal dominantly inherited highly penetrant tumor syndrome predisposing to retinal and central nervous system hemangioblastomas, renal cell carcinoma and phaeochromocytoma among other less frequent complications. METHODS: Molecular genetic testing of t...
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| Glavni autori: | , , , , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
BioMed Central
2013
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3556325/ https://ncbi.nlm.nih.gov/pubmed/23298237 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-14-3 |
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