Genetic Basis of Congenital Erythrocytosis: Mutation Update and Online Databases. Issue 1 (22nd October 2013)

• Record Type: Journal Article
• Authors: Bento, Celeste; Percy, Melanie J.; Gardie, Betty; Maia, Tabita Magalhães; van, Richard; Perrotta, Silverio; Della Ragione, Fulvio; Almeida, Helena; Rossi, Cedric; Girodon, François; Åström, 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;
• Is Part Of: Human mutation. Volume 35:Issue 1(2014:Jan.)
• Page Start: 15
• Page End: 26
• Publication Date: 2013-10-22
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22448
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22448-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>Congenital Erythrocytosis (CE) is caused by deregulated red blood cell production where erythrocyte overproduction results in elevated hemoglobin and hematocrit levels. Despite recent important discoveries in the molecular pathogenesis of CE, the molecular causes remain to be identified in about 70% of the patients. The implementation of internet‐based erythrocytosis database and next‐generation sequencing is expected to further expand the number of genes involved in CE and to establish clinical and genotype–phenotype correlations in larger groups of individuals. <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgg3zsp6nnb" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>