Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)

Mutations in genes encoding proteins that are involved in mitochondrial heme synthesis, iron-sulfur cluster biogenesis, and mitochondrial protein synthesis have previously been implicated in the pathogenesis of the congenital sideroblastic anemias (CSAs). We recently described a syndromic form of CS...

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Detalhes bibliográficos
Main Authors: Chakraborty, Pranesh K., Schmitz-Abe, Klaus, Kennedy, Erin K., Mamady, Hapsatou, Naas, Turaya, Durie, Danielle, Campagna, Dean R., Lau, Ashley, Sendamarai, Anoop K., Wiseman, Daniel H., May, Alison, Jolles, Stephen, Connor, Philip, Powell, Colin, Heeney, Matthew M., Giardina, Patricia-Jane, Klaassen, Robert J., Kannengiesser, Caroline, Thuret, Isabelle, Thompson, Alexis A., Marques, Laura, Hughes, Stephen, Bonney, Denise K., Bottomley, Sylvia S., Wynn, Robert F., Laxer, Ronald M., Minniti, Caterina P., Moppett, John, Bordon, Victoria, Geraghty, Michael, Joyce, Paul B. M., Markianos, Kyriacos, Rudner, Adam D., Holcik, Martin, Fleming, Mark D.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Hematology 2014
Assuntos:
Red Cells, Iron, and Erythropoiesis
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4215314/
https://ncbi.nlm.nih.gov/pubmed/25193871
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2014-08-591370
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