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Three novel mutations in the von Hippel-Lindau tumour suppressor gene in Italian patients

✍ Scribed by Paola Mandich; Mariapina Montera; Emilia Bellone; Alessandra Trojani; Salvatore Daniele; Franco Ajmar

Publisher
John Wiley and Sons
Year
1998
Tongue
English
Weight
191 KB
Volume
11
Category
Article
ISSN
1059-7794

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MUTATION OF THE VON HIPPEL-LINDAU TUMOUR
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A series of 20 capillary haemangioblastomas of the central nervous system was screened for mutations of the von Hippel-Lindau ( VHL) tumour suppressor gene by single strand conformational polymorphism (SSCP) and heteroduplex analysis. Aberrant polymerase chain reaction (PCR) products were detected i

Improved detection of germline mutations
Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene
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Communicated by Victor A. McKusick von Hippel-Lindau disease (VHL) is an inherited neoplastic disorder characterized by the development of tumors in the eyes, brain, spinal cord, inner ear, adrenal gland, pancreas, kidney, and epididymis. The VHL tumor suppressor gene was identified in 1993. Initial

Identification of two sporadically deriv
Identification of two sporadically derived mutations in the Von Hippel-Lindau gene
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Von Hippel-Lindau disease is an autosomal dominantly inherited disorder characterised by the development of haemangioblastomas, renal carcinomas, retinal angiomata, pancreatic tumours, and phaeochromocytomas . The tumour suppressor gene responsible for VHL has been mapped to 3p25 and a partial sequ

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The von Hippel-Lindau tumor suppressor gene expression level has prognostic value in neuroblastoma
✍ Jasmien Hoebeeck; Jo Vandesompele; HelΓ©n Nilsson; Katleen De Preter; Nadine Van πŸ“‚ Article πŸ“… 2006 πŸ› John Wiley and Sons 🌐 French βš– 166 KB

## Abstract Deletions of the short arm of chromosome 3 are often observed in a specific subset of aggressive neuroblastomas (NBs) with loss of distal 11q and without __MYCN__ amplification. The critical deleted region encompasses the locus of the von Hippel‐Lindau gene (__VHL__, 3p25). Constitution