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TITLE: Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)
AUTHORS: Pranesh K Chakraborty; Klaus Schmitz Abe; Erin K Kennedy; Hapsatou Mamady; Turaya Naas; Danielle Durie; Dean R Campagna; Ashley Lau; Anoop K Sendamarai; Daniel H Wiseman; Alison May; Stephen Jolles; Philip Connor; Colin Powell; Matthew M Heeney; Patricia Jane Giardina; Robert J Klaassen; Caroline Kannengiesser; Isabelle Thuret; Alexis A Thompson; Laura Marques; Stephen Hughes; Denise K Bonney; Sylvia S Bottomley; Robert F Wynn; Ronald M Laxer; Caterina P Minniti; John Moppett; Victoria Bordon; Michael Geraghty; Paul B M Joyce; Kyriacos Markianos; Adam D Rudner; Martin Holcik; Mark D Fleming; ...More
PUBLISHED: 2014, SOURCE: BLOOD, VOLUME: 124, ISSUE: 18

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