Ontology highlight
ABSTRACT:
SUBMITTER: Kumar PS
PROVIDER: S-EPMC3841571 | biostudies-literature | 2013 Jul
REPOSITORIES: biostudies-literature
Kumar Pasupuleti Santhosh PS Venkatesh Katari K Srikanth Lokanathan L Sarma Potukuchi Venkata Gurunadha Krishna PV Reddy Akkamgari Ramprasad AR Subramanian Srinivasan S Phaneendra Bobbidi Venkata BV
Indian journal of human genetics 20130701 3
Von Hippel-Lindau (VHL) disease is an autosomal dominant hereditary cancer syndrome that predisposes to the development of a variety of benign and malignant tumors, especially cerebellar hemangioblastomas, retinal angiomas and clear-cell renal cell carcinomas (RCC). We have identified of VHL gene using immunohistochemistry in a patient who was diagnosed for RCC. In order to understand the involvement of mutation in the VHL gene exon 1 was amplified and sequenced (accession number: JX 401534). Th ...[more]