Article
Genetic basis of congenital erythrocytosis: mutation update and online databases.
Human mutation - 1 Jan 2014
Bento Celeste, Percy Melanie J, Gardie Betty, Maia Tabita Magalhães, van Wijk Richard, Perrotta Silverio, Della Ragione Fulvio, Almeida Helena, Rossi Cedric, Girodon François, Aström Maria, Neumann Drorit, Schnittger Susanne, Landin Britta, Minkov Milen, Randi Maria Luigia, Richard Stéphane, Casadevall Nicole, Vainchenker William, Rives Susana, Hermouet Sylvie, Ribeiro M Leticia, McMullin Mary Frances, Cario Holger, Chauveau Aurelie, Gimenez-Roqueplo Anne-Paule, Bressac-de-Paillerets Brigitte, Altindirek Didem, Lorenzo Felipe, Lambert Frederic, Dan Harlev, Gad-Lapiteau Sophie, Catarina Oliveira Ana, Rossi Cédric, Fraga Cristina, Taradin Gennadiy, Martin-Nuñez Guillermo, Vitória Helena, Diaz Aguado Herrera, Palmblad Jan, Vidán Julia, Relvas Luis, Ribeiro Maria Leticia, Luigi Larocca Maria, Luigia Randi Maria, Pedro Silveira Maria, Percy Melanie, Gross Mor, Marques da Costa Ricardo, Beshara Soheir, Ben-Ami Tal, Ugo Valérie
Abstract excerpt
Congenital erythrocytosis (CE), or congenital polycythemia, represents a rare and heterogeneous clinical entity. It is caused by deregulated red blood cell production where erythrocyte overproduction results in elevated hemoglobin and hematocrit levels. Primary congenital familial erythrocytosis is associated with low erythropoietin (Epo) levels and results from mutations in the Epo receptor gene (EPOR)....
Topics
- Cell Hypoxia
- Databases, Genetic
- Erythropoietin
- Genetic Predisposition to Disease