title: Low frequency of VHL gene mutations in young individuals with polycythemia and high serum erythropoietin.
abstract: In one out of six young individuals with polycythemia and high erythropoietin levels we found a heterozygous VHL gene mutation (430G->A;Gly144Arg). The man's unaffected mother and sister carry the same mutation. No other VHL genomic or expression alterations were found. In one other patient different genetic conditions were found.
authors.forename: Maria Luigia
authors.initials: ML
authors.lastname: Randi
authors.forename: Alessandra
authors.initials: A
authors.lastname: Murgia
authors.forename: Maria Caterina
authors.initials: MC
authors.lastname: Putti
authors.forename: Maddalena
authors.initials: M
authors.lastname: Martella
authors.forename: Alberto
authors.initials: A
authors.lastname: Casarin
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Opocher
authors.forename: Fabrizio
authors.initials: F
authors.lastname: Fabris
mesh_terms: D000293:Adolescent; D000328:Adult; D019943:Amino Acid Substitution; D002675:Child, Preschool; D004921:Erythropoietin / Q000097:blood; D005260:Female; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007558:Italy; D008297:Male; D020125:Mutation, Missense; D010641:Phenotype; D011086:Polycythemia / Q000097:blood / Q000235:genetics*; D051794:Von Hippel-Lindau Tumor Suppressor Protein / Q000235:genetics*
chemical_list: D004921:Erythropoietin; D051794:Von Hippel-Lindau Tumor Suppressor Protein