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Article(3)
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American Journal of Physical Anthropology(1)
Forensic Science International: Genetics Supplement Series(1)
Frontiers in Cardiovascular Medicine(1)
Genomic analysis of a novel pathogenic variant in the gene LMNA associated with cardiac laminopathies found in Ecuadorian siblings: A case report
ArticleAbstract: Introduction: Cardiac laminopathies are caused by mutations in the LMNA gene and include a wide rangPalabras claves:Cardiovascular disease, genome, LMNA, NGS, Precision MedicineAutores:Ana Karina Zambrano, Doménech N., Elius Paz-Cruz, Ibarra-Castillo R., Ibarra-Rodríguez A.A., Laso-Bayas J.L., P. Guevara-Ramírez, Rafael Tamayo-Trujillo, Santiago Cadena-Ullauri, Viviana A. Ruiz-PozoFuentes:scopusEfficient preservation of DNA extracted from blood in FTA cards by Chelex method
ArticleAbstract: Chelex resin has been developed and widely used for extracting DNA from different forensic-type sampPalabras claves:Chelex resin, DNA preservation, Reference samplesAutores:Germán Burgos, Irina M. Villacrés-Granda, Rodrigo Flores-Espinoza, Viviana A. Ruiz-PozoFuentes:scopusInvestigating genetic diversity in admixed populations from Ecuador
ArticleAbstract: Objectives: According to demographic history, Ecuador has experienced shifts in its Native AmericanPalabras claves:Indels, linkage disequilibrium, MESTIZO, STRs, X chromosomeAutores:Alejandro Cabrera-Andrade, Elius Paz-Cruz, Germán Burgos, Gusmão L., Lopez-Carrera M., Rodrigo Flores-Espinoza, Viviana A. Ruiz-PozoFuentes:googlescopus