Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)
- Resource Type
- Short Communication
- 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.
- Source
- In Blood 30 October 2014 124(18):2867-2871
- Subject
- Language
- ISSN
- 0006-4971