Molecular genetic analyses in familial and sporadic congenital primary erythrocytosis.

@article{Rives2007MolecularGA,
  title={Molecular genetic analyses in familial and sporadic congenital primary erythrocytosis.},
  author={Susana Rives and Heike L Pahl and Lourdes Florensa and Beatriz Bellosillo and Andrea Neusuess and Jes{\'u}s M. Gonçalvez Estella and Klaus-Michael Debatin and Elisabeth Kohne and Klaus Schwarz and Holger Cario},
  journal={Haematologica},
  year={2007},
  volume={92 5},
  pages={674-7}
}
Dominant mutations in the erythropoietin receptor (EPOR) gene account for only about 15% of cases of primary congenital erythrocytosis. To search for molecular alterations in patients with this disorder. Sixteen patients with Epo <10 mU/mL were studied, 3 were related. Analyses included EPOR and JAK2 gene sequencing, quantitative PRV-1 RT-PCR, and erythroid colony assays. A novel sporadic EPOR 1453G->A (Trp439Stop) mutation was detected. All familial cases, varied in phenotype, presented the… CONTINUE READING