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- W4239487844 abstract "After a decade of intensive clinical and molecular genetic efforts the von Hippel-Lindau (VHL) gene was cloned in 1993. The open reading frame encodes the putative protein of 284 amino acids. A large number of different mutations have been identified so far, including single base mutations, deletions, rearrangements and more complex mutations. So far, in about 75% of the VHL families germline mutations were detected. Geno-phenotypic comparision has revealed specific mutations with distinct manifestation patterns. Not all of the 6 classical lesions (hemangioblastoma of the CNS, retinal angiomatosis, pancreatic cysts, renal cysts and carcinoma, pheochromocytoma and epididymal cystadenoma) are present in VHL families. Pedigrees with pheochromocytoma but without renal cancer in general have point mutations. These recent results provide insight in the pathogenesis of a multiorgan cancer susceptibility tumor suppressor gene and allow determination of carrier status." @default.
- W4239487844 created "2022-05-12" @default.
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- W4239487844 date "1995-04-01" @default.
- W4239487844 modified "2023-10-01" @default.
- W4239487844 title "Von Hippel-Lindau Syndrome" @default.
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- W4239487844 doi "https://doi.org/10.1111/j.1750-3639.1995.tb00592.x" @default.
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