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IRIDA Phenotype in TMPRSS6 Monoallelic-Affected Patients: Toward a Better Understanding of the Pathophysiology

Iron-refractory iron deficiency anemia (IRIDA) is an autosomal recessive inherited form of iron deficiency anemia characterized by discrepantly high hepcidin levels relative to body iron status. However, patients with monoallelic exonic TMPRSS6 variants have also been reported to express the IRIDA p...

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Detalles Bibliográficos
Autores principales: Hoving, Vera, Korman, Scott E., Antonopoulos, Petros, Donker, Albertine E., Schols, Saskia E. M., Swinkels, Dorine W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9331965/
https://www.ncbi.nlm.nih.gov/pubmed/35893046
http://dx.doi.org/10.3390/genes13081309