Genotype-phenotype correlation in von Hippel-Lindau disease: identification of a mutation associated with VHL type 2A

Autor:	John J. Mulvihill, S E Tisherman, F. Chen, Berton Zbar, T Kishida, L. Slife
Jazyk:	angličtina
Rok vydání:	1996
Předmět:	von Hippel-Lindau Disease endocrine system diseases Genotype Ubiquitin-Protein Ligases DNA Mutational Analysis Pheochromocytoma Biology urologic and male genital diseases Ligases Polymorphism (computer science) Germany Genetics medicine Missense mutation Humans Point Mutation Genes Tumor Suppressor cardiovascular diseases Von Hippel–Lindau disease Gene neoplasms Genetics (clinical) Polymorphism Single-Stranded Conformational Point mutation Tumor Suppressor Proteins Proteins Pennsylvania medicine.disease Phenotype female genital diseases and pregnancy complications Von Hippel-Lindau Tumor Suppressor Protein Mutation (genetic algorithm) Research Article
Popis:	A family with von Hippel-Lindau disease (VHL) type 2A has been shown to have a T to C missense mutation at nucleotide 547 of the VHL gene. This gives further support for the proposal to associate the 547 T to C mutation with phenotype VHL 2A.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23ddf460f1b662e87a09d25a9107ebdd https://europepmc.org/articles/PMC1050712/ Zobrazit plný text záznamu