A RARE CAUSE OF SIDEROBLASTIC ANEMIA: TRNT1 MUTATION
Case report: tRNA nucleotidyltransferase 1(TRNT1) gene encodes a polymerase involved in the maturation of cytosolic and mitochondrial transfer RNAs. Autosomal recessive loss of function mutations of TRNT1 leads sideroblastic anemia, immunodeficiency, fevers and developmental delay at varying degrees...
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Auteurs principaux: | Fatma Tuba YILDIRIM, Elif Benderlioğlu, Dilek Kaçar, Neşe Yaralı |
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Format: | article |
Langue: | EN |
Publié: |
Elsevier
2021
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Accès en ligne: | https://doaj.org/article/eff16e9435ff46f8a12425779f3935a0 |
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