VHL-P138R and VHL-L163R Novel Variants: Mechanisms of VHL Pathogenicity Involving HIF-Dependent and HIF-Independent Actions

Matho, C; Fernandez, MC; Bonanata, J; Liu, XD; Martin, A; Vieites, A; Sanso, G; Barontini, M; Jonasch, E; Coitino, EL; Pennisi, PA

Pennisi, PA (通讯作者)，Hosp Ninos Dr Ricardo Gutierrez, Fdn Endocrinol Infantil CONICET FEI, Ctr Invest Endocrinol Dr Cesar Bergada CEDIE, Consejo Nacl Invest Cient & Tecn,Div Endocrinol, Buenos Aires, DF, Argentina.

FRONTIERS IN ENDOCRINOLOGY, 2022; 13 ():

Abstract

The von Hippel-Lindau (VHL) disease is an autosomal dominant cancer syndrome caused by mutations in the VHL tumor suppressor gene. VHL protein (pVHL) ......

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