A RARE CAUSE OF SIDEROBLASTIC ANEMIA: TRNT1 MUTATION

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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Bibliographic Details
Main Authors: Fatma Tuba YILDIRIM, Elif Benderlioğlu, Dilek Kaçar, Neşe Yaralı
Format: Article
Language:English
Published: Elsevier 2021-11-01
Series:Hematology, Transfusion and Cell Therapy
Online Access:http://www.sciencedirect.com/science/article/pii/S2531137921011470

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http://www.sciencedirect.com/science/article/pii/S2531137921011470

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