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MCT8 Deficiency: The Road to Therapies for a Rare Disease
Allan-Herndon-Dudley syndrome is a rare disease caused by inactivating mutations in the SLC16A2 gene, which encodes the monocarboxylate transporter 8 (MCT8), a transmembrane transporter specific for thyroid hormones (T3 and T4). Lack of MCT8 function produces serious neurological disturbances, most...
Autores principales: | Grijota-Martínez, Carmen, Bárez-López, Soledad, Gómez-Andrés, David, Guadaño-Ferraz, Ana |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Frontiers Media S.A.
2020
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7198743/ https://www.ncbi.nlm.nih.gov/pubmed/32410949 http://dx.doi.org/10.3389/fnins.2020.00380 |
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