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L-Ferritin: One Gene, Five Diseases; from Hereditary Hyperferritinemia to Hypoferritinemia—Report of New Cases
Ferritin is a multimeric protein composed of light (L-ferritin) and heavy (H-ferritin) subunits that binds and stores iron inside the cell. A variety of mutations have been reported in the L-ferritin subunit gene (FTL gene) that cause the following five diseases: (1) hereditary hyperferritinemia wit...
Autores principales: | Cadenas, Beatriz, Fita-Torró, Josep, Bermúdez-Cortés, Mar, Hernandez-Rodriguez, Inés, Fuster, José Luis, Llinares, María Esther, Galera, Ana María, Romero, Julia Lee, Pérez-Montero, Santiago, Tornador, Cristian, Sanchez, Mayka |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6469184/ https://www.ncbi.nlm.nih.gov/pubmed/30678075 http://dx.doi.org/10.3390/ph12010017 |
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