25193871 |
Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)
Naas, T,
Lau, A,
Durie, D,
Moppett, J,
Campagna, DR,
Giardina, PJ,
Geraghty, M,
Fleming, MD,
Jolles, S,
Schmitz-Abe, K,
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Holcik, M,
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Chakraborty, PK,
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Hughes, S,
Mamady, H,
Minniti, CP,
Wynn, RF,
Marques, L,
Heeney, MM,
Sendamarai, AK,
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Bordon, V,
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Laxer, RM,
Bottomley, SS,
Rudner, AD,
Klaassen, RJ,
Powell, C,
Thuret, I
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Blood |
2014 |
25652405 |
The 3' addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1
Elpeleg, O,
Gauthier, J,
Maftei, C,
Shoubridge, EA,
Weraarpachai, W,
Brunel-Guitton, C,
Antonicka, H,
Ellazam, B,
Mitchell, G,
Webb, N,
Salomon, S,
Sasarman, F,
Thiffault, I,
Janer, A
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Hum. Mol. Genet. |
2015 |