Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)
TRNT1 基因突变会导致先天性铁粒幼细胞性贫血伴免疫缺陷、发热和发育迟缓(SIFD)。
期刊:Blood
影响因子:23.1
doi:10.1182/blood-2014-08-591370
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