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.
Publication types
-
Case Reports
-
Letter
-
Research Support, Non-U.S. Gov't
MeSH terms
-
Adolescent
-
Adult
-
Amino Acid Substitution
-
Child, Preschool
-
Erythropoietin / blood
-
Female
-
Heterozygote
-
Humans
-
Infant
-
Italy
-
Male
-
Mutation, Missense
-
Phenotype
-
Polycythemia / blood
-
Polycythemia / genetics*
-
Von Hippel-Lindau Tumor Suppressor Protein / genetics*
Substances
-
Erythropoietin
-
Von Hippel-Lindau Tumor Suppressor Protein