Molecular-genetic diagnostics of von Hippel-Lindau syndrome (VHL) in Bulgaria: first complex mutation event in the VHL gene

Glushkova, M; Dimova, P; Yordanova, I; Todorov, T; Tourtourikov, I; Mitev, V; Todorova, A

Glushkova, M (reprint author), Med Univ Sofia, Dept Med Chem & Biochem, Sofia, Bulgaria.; Glushkova, M (reprint author), Genet Medicodiagnost Lab Genica, Res Project, Sofia, Bulgaria.

INTERNATIONAL JOURNAL OF NEUROSCIENCE, 2018; 128 (2): 117

Abstract

Von Hippel-Lindau syndrome is an autosomal-dominant disease characterized by the formation of various tumours and cysts in many different parts of the......

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