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

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

Research output: Contribution to journalArticle

19 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)689-691
Number of pages3
JournalHaematologica
Volume90
Issue number5
Publication statusPublished - May 2005

Fingerprint

Polycythemia
Erythropoietin
Gene Frequency
Mutation
Serum
Siblings
Mothers
Genes

Keywords

  • Chuvash polycythemia
  • Polycythemia
  • VHL gene

ASJC Scopus subject areas

  • Hematology

Cite this

Randi, M. L., Murgia, A., Caterina Putti, M., Martella, M., Casarin, A., Opocher, G., & Fabris, F. (2005). Low frequency of VHL gene mutations in young individuals with polycythemia and high serum erythropoietin. Haematologica, 90(5), 689-691.

Low frequency of VHL gene mutations in young individuals with polycythemia and high serum erythropoietin. / Randi, Maria Luigia; Murgia, Alessandra; Caterina Putti, Maria; Martella, Maddalena; Casarin, Alberto; Opocher, Giuseppe; Fabris, Fabrizio.

In: Haematologica, Vol. 90, No. 5, 05.2005, p. 689-691.

Research output: Contribution to journalArticle

Randi, ML, Murgia, A, Caterina Putti, M, Martella, M, Casarin, A, Opocher, G & Fabris, F 2005, 'Low frequency of VHL gene mutations in young individuals with polycythemia and high serum erythropoietin', Haematologica, vol. 90, no. 5, pp. 689-691.
Randi ML, Murgia A, Caterina Putti M, Martella M, Casarin A, Opocher G et al. Low frequency of VHL gene mutations in young individuals with polycythemia and high serum erythropoietin. Haematologica. 2005 May;90(5):689-691.
Randi, Maria Luigia ; Murgia, Alessandra ; Caterina Putti, Maria ; Martella, Maddalena ; Casarin, Alberto ; Opocher, Giuseppe ; Fabris, Fabrizio. / Low frequency of VHL gene mutations in young individuals with polycythemia and high serum erythropoietin. In: Haematologica. 2005 ; Vol. 90, No. 5. pp. 689-691.
@article{dae6ab55f49e46dc9841e50ace61676d,
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.",
keywords = "Chuvash polycythemia, Polycythemia, VHL gene",
author = "Randi, {Maria Luigia} and Alessandra Murgia and {Caterina Putti}, Maria and Maddalena Martella and Alberto Casarin and Giuseppe Opocher and Fabrizio Fabris",
year = "2005",
month = "5",
language = "English",
volume = "90",
pages = "689--691",
journal = "Haematologica",
issn = "0390-6078",
publisher = "NLM (Medline)",
number = "5",

}

TY - JOUR

T1 - Low frequency of VHL gene mutations in young individuals with polycythemia and high serum erythropoietin

AU - Randi, Maria Luigia

AU - Murgia, Alessandra

AU - Caterina Putti, Maria

AU - Martella, Maddalena

AU - Casarin, Alberto

AU - Opocher, Giuseppe

AU - Fabris, Fabrizio

PY - 2005/5

Y1 - 2005/5

N2 - 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.

AB - 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.

KW - Chuvash polycythemia

KW - Polycythemia

KW - VHL gene

UR - http://www.scopus.com/inward/record.url?scp=20344370255&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=20344370255&partnerID=8YFLogxK

M3 - Article

C2 - 15921386

AN - SCOPUS:20344370255

VL - 90

SP - 689

EP - 691

JO - Haematologica

JF - Haematologica

SN - 0390-6078

IS - 5

ER -