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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Bibliografski detalji
Glavni autori: 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.
Format: Artigo
Jezik:Inglês
Izdano: American Society of Hematology 2014
Teme:
Red Cells, Iron, and Erythropoiesis
Online pristup: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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