Article

A Nonsense Mutation in VHL Gene Causing Von Hippel-lindau Syndrome in a Large Chinese Family

2020-10-23

Abstract excerpt

<h4>Background: </h4> Von Hippel-Lindau (VHL) syndrome is a multi-organ neoplastic disease characterized by highly vascular and cystic tumors in central nervous system (CNS), retina and visceral lesions, which is mainly caused by germline mutations in the VHL gene. MethodsHere, a large consanguineous four-generation family with variant phenotypes of VHL disease was recruited and molecular genetics tested via Sange...

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Literature Corpus work: 62ebc4a2-2bad-55e9-a710-4267df1032f2
DOI: 10.21203/rs.3.rs-95115/v1

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