Novel Mutation in the SLC19A2 Gene in an Iranian Family with Thiamine-Responsive Megaloblastic Anemia: A Series of Three Cases

Thiamine-responsive megaloblastic anemia (TRMA) is a clinical triad characterized by megaloblastic anemia, non-autoimmune diabetes mellitus, and sensory-neural hearing loss. Mutations in the thiamine transporter gene, solute carrier family 19, member 2 (SLC19A2), have been associated with TRMA. Thre...

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Detalles Bibliográficos
Autores principales: Ghaemi, Nosrat, Ghahraman, Martha, Abbaszadegan, Mohammad Reza, Baradaran-Heravi, Alireza, Vakili, Rahim
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3814536/
https://www.ncbi.nlm.nih.gov/pubmed/24072090
http://dx.doi.org/10.4274/Jcrpe.969

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