p.Arg82Leu von Hippel-Lindau (VHL) Gene Mutation among Three Members of a Family with Familial Bilateral Pheochromocytoma in India: Molecular Analysis and In Silico Characterization

Various missense mutations in the VHL gene have been reported among patients with familial bilateral pheochromocytoma. However, the p.Arg82Leu mutation in the VHL gene described here among patients with familial bilateral pheochromocytoma, has never been reported previously in a germline configurati...

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Detalles Bibliográficos
Autores principales: John, Anulekha Mary, C, George Priya Doss, Ebenazer, Andrew, Seshadri, Mandalam Subramaniam, Nair, Aravindan, Rajaratnam, Simon, Pai, Rekha
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3633967/
https://www.ncbi.nlm.nih.gov/pubmed/23626751
http://dx.doi.org/10.1371/journal.pone.0061908

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