Molecular genetic analyses in familial and sporadic congenital primary erythrocytosis

oleh: Susana Rives, Heike L. Pahl, Lourdes Florensa, Beatriz Bellosillo, Andrea Neusuess, Jesus Estella, Klaus-Michael Debatin, Elisabeth Kohne, Klaus Schwarz, Holger Cario

Format: Article
Diterbitkan: Ferrata Storti Foundation 2007-05-01

Deskripsi

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