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Development and characterization of cell models harbouring mtDNA deletions for in vitro study of Pearson syndrome
Pearson syndrome is a rare multisystem disease caused by single large-scale mitochondrial DNA deletions (SLSMDs). The syndrome presents early in infancy and is mainly characterised by refractory sideroblastic anaemia. Prognosis is poor and treatment is supportive, thus the development of new models...
Autores principales: | Hernández-Ainsa, Carmen, López-Gallardo, Ester, García-Jiménez, María Concepción, Climent-Alcalá, Francisco José, Rodríguez-Vigil, Carmen, García Fernández de Villalta, Marta, Artuch, Rafael, Montoya, Julio, Ruiz-Pesini, Eduardo, Emperador, Sonia |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Company of Biologists Ltd
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8906170/ https://www.ncbi.nlm.nih.gov/pubmed/35191981 http://dx.doi.org/10.1242/dmm.049083 |
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