作者: E R Maher , F M Richards , A R Webster , N A Affara , A H Prowse
DOI:
关键词: Cancer research 、 Point mutation 、 Von Hippel–Lindau disease 、 Missense mutation 、 Pheochromocytoma 、 Loss of heterozygosity 、 Carcinogenesis 、 Allelic heterogeneity 、 Germline mutation 、 Biology
摘要: Von Hippel-Lindau (VHL) disease is a dominantly inherited disorder predisposing to retinal and CNS hemangioblastomas, renal cell carcinoma (RCC), pheochromocytoma, and …