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Novel three missense mutations observed in Von Hippel-Lindau gene in a patient reported with renal cell carcinoma

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 us...

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Detalles Bibliográficos
Autores principales: Kumar, Pasupuleti Santhosh, Venkatesh, Katari, Srikanth, Lokanathan, Sarma, Potukuchi Venkata Gurunadha Krishna, Reddy, Akkamgari Ramprasad, Subramanian, Srinivasan, Phaneendra, Bobbidi Venkata
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3841571/
https://www.ncbi.nlm.nih.gov/pubmed/24339559
http://dx.doi.org/10.4103/0971-6866.120809