Identification of intragenic mutations in the Von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype

Von Hippel-Lindau (VHL) disease is a dominantly inherited familial cancer syndrome predisposing to a variety of malignant and benign neoplasms, most frequently retinal, cerebellar and spinal haemangioblastoma, renal cell carcinoma, phaeochromocytoma and pancreatic tumours. We have previously detecte...

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Veröffentlicht in:	Human molecular genetics 1994-08, Vol.3 (8), p.1303-1308
Hauptverfasser:	CROSSEY, P. A, RICHARDS, F. M, MAHER, E. R, FOSTER, K, GREEN, J. S, PROWSE, A, LATIF, F, LERMAN, M. I, ZBAR, B, AFFARA, N. A, FERGUSON-SMITH, M. A
Format:	Artikel
Sprache:	eng
Schlagworte:	Base Sequence Biological and medical sciences DNA - analysis Exons Genes, Tumor Suppressor - genetics Humans Medical sciences Molecular Sequence Data Mutation Neurology Phenotype Polymorphism, Single-Stranded Conformational Vascular diseases and vascular malformations of the nervous system von Hippel-Lindau Disease - genetics
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