Article
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.
PloS one - 1 Jan 2013
John Anulekha Mary, C George Priya Doss, Ebenazer Andrew, Seshadri Mandalam Subramaniam, Nair Aravindan, Rajaratnam Simon, Pai Rekha
Abstract excerpt
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 configuration. Interestingly, long-term follow-up of these patients indicated that the mutation might have had little impact on...
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