Work

Low frequency of VHL gene mutations in young individuals with polycythemia and high serum erythropoietin.

Year: 2005

Type: article

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.

Source: PubMed

Authors: Maria Luigia Randi, Alessandra Murgia, Maria Caterina Putti, Maddalena Martella, Alberto Casarin, Giuseppe Opocher, Fabrizio Fabris

Institutions: University of Padua, Istituto Oncologico Veneto

Language: English

Topic: Erythropoietin and Anemia Treatment

Subfield: Hematology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: green

OpenAlex ID: W2198431280

FWCI: 1.534

Cites: 9

Cited by: 20

Related to: 10