Two new mutations in the GLRX5 gene cause sideroblastic anemia
Blood Cells Mol Dis
.
2023 Sep:102:102763.
doi: 10.1016/j.bcmd.2023.102763.
Epub 2023 Jun 2.
Authors
Andrés Felipe Melo Arias
1
,
Silvia Escribano Serrat
2
,
Jorge Martínez Nieto
1
,
Fiorella Medina Salazar
1
,
Paloma Ropero Gradilla
1
,
Celina Benavente Cuesta
1
,
Fernando Ataúlfo González Fernández
1
Affiliations
1
Department of Hematology and Hemotherapy, Hospital Clínico San Carlos, IdiSSC, Madrid, Spain.
2
Department of Hematology and Hemotherapy, Hospital Clínico San Carlos, IdiSSC, Madrid, Spain. Electronic address: sescribanos@salud.madrid.org.
PMID:
37301020
DOI:
10.1016/j.bcmd.2023.102763
No abstract available
Publication types
Letter
MeSH terms
5-Aminolevulinate Synthetase / genetics
Anemia, Sideroblastic* / genetics
Glutaredoxins / genetics
Humans
Mutation
Mutation, Missense
Substances
5-Aminolevulinate Synthetase
GLRX5 protein, human
Glutaredoxins