Listar por autor "Cadena-Ullauri, Santiago"
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Genomic analysis of a novel pathogenic variant in the gene LMNA associated with cardiac laminopathies found in Ecuadorian siblings: A case report
Doménech, Nieves; Guevara-Ramírez, Patricia; Cadena-Ullauri, Santiago; Ibarra-Castillo, Rita; Laso-Bayas, José Luis; Paz-Cruz, Elius; Tamayo-Trujillo, Rafael; Ruiz-Pozo, Viviana A.; Ibarra Rodríguez, Adriana Alexandra; Zambrano, Ana Karina (Frontiers, 2023-03)[Abstract] Introduction: Cardiac laminopathies are caused by mutations in the LMNA gene and include a wide range of clinical manifestations involving electrical and mechanical changes in cardiomyocytes. In Ecuador, ...