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Listar por autor "Domínguez Giménez, Paloma"
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Artículo
Cell consequences of loss of function of the epigenetic factor EHMT1
Iglesias Ortega, Lucía; Megías Fernández, Clara; Domínguez Giménez, Paloma; Jimeno González, Silvia; Rivero Canalejo, Sabrina (Elsevier, 2023)EHMT1 is an epigenetic factor with histone methyltransferase activity that appears mutated in Kleefstra syndrome, a ...
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Artículo
Disease-Causing Mutations in BEST1 Gene Are Associated with Altered Sorting of Bestrophin-1 Protein
Doumanov, Jordan A.; Zeitz, Christina; Domínguez Giménez, Paloma; Krishna, Abhay; Bellido Díaz, María Luz (MDPI, 2013)Mutations in BEST1 gene, encoding the bestrophin-1 (Best1) protein are associated with macular dystrophies. Best1 is ...