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Impaired activity of CCA-adding enzyme TRNT1 impacts OXPHOS complexes and cellular respiration in SIFD patient-derived fibroblasts
BACKGROUND: SIFD (Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay) is a novel form of congenital sideroblastic anemia associated with B-cell immunodeficiency, periodic fevers, and developmental delay caused by mutations in the CCA-adding enzyme TRNT1, but...
Autores principales: | Liwak-Muir, Urszula, Mamady, Hapsatou, Naas, Turaya, Wylie, Quinlan, McBride, Skye, Lines, Matthew, Michaud, Jean, Baird, Stephen D., Chakraborty, Pranesh K., Holcik, Martin |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4912790/ https://www.ncbi.nlm.nih.gov/pubmed/27317422 http://dx.doi.org/10.1186/s13023-016-0466-3 |
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