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Details on Person Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)

Class:IdLiteratureReference:6786814
_displayNameMutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)
_timestamp2015-07-10 15:56:15
author[Person:6786872] Chakraborty, Pranesh K
[Person:6783950] Schmitz-Abe, Klaus
[Person:6786819] Kennedy, Erin K
[Person:6786875] Mamady, Hapsatou
[Person:6786842] Naas, Turaya
[Person:6786844] Durie, Danielle
[Person:6786836] Campagna, Dean R
[Person:6786843] Lau, Ashley
[Person:6786801] Sendamarai, Anoop K
[Person:6786884] Wiseman, Daniel H
[Person:6786861] May, Alison
[Person:6786829] Jolles, Stephen
[Person:6786866] Connor, Philip
[Person:6786853] Powell, Colin
[Person:6786865] Heeney, Matthew M
[Person:6786839] Giardina, Patricia-Jane
[Person:6786852] Klaassen, Robert J
[Person:6786874] Kannengiesser, Caroline
[Person:6786855] Thuret, Isabelle
[Person:6786817] Thompson, Alexis A
[Person:6786800] Marques, Laura
[Person:6786811] Hughes, Stephen
[Person:6786822] Bonney, Denise K
[Person:6786863] Bottomley, Sylvia S
[Person:6786879] Wynn, Robert F
[Person:6786798] Laxer, Ronald M
[Person:6786813] Minniti, Caterina P
[Person:6786835] Moppett, John
[Person:6786860] Bordon, Victoria
[Person:6786825] Geraghty, Michael
[Person:6786818] Joyce, Paul B M
[Person:5661081] Markianos, Kyriacos
[Person:6786851] Rudner, Adam D
[Person:6786821] Holcik, Martin
[Person:6786828] Fleming, Mark D
created[InstanceEdit:6786846] May, Bruce, 2015-07-10
journalBlood
pages2867-71
pubMedIdentifier25193871
titleMutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)
volume124
year2014
(literatureReference)[Reaction:6786881] TRNT1 polymerizes CCA at the 3' end of pre-tRNA [Homo sapiens]
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No pathways have been reviewed or authored by Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD) (6786814)