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 Victor Eric, 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 and Fleming, Mark D.
2014.
Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD).
Blood
124
(18)
, pp. 2867-2871.
10.1182/blood-2014-08-591370
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