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Forensic Science International: Genetics(1)
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scopus(3)
Biogeographical origin and timing of the founder ichthyosis TGM1 c.1187G > A mutation in an isolated Ecuadorian population
ArticleAbstract: An unusually high frequency of the lamellar ichthyosis TGM1 mutation, c.1187G > A, has been observedPalabras claves:Autores:Daniel Tettamanti-Miranda, Esperón-Moldes U.S., Fachal L., Ginarte M., Gómez-Carballa A., Juan Carlos Ruiz, Martha Montalván-Suárez, Moscoso F., Ordoñez-Ugalde A., Pardo-Seco J., Rodríguez-Pazos L., Salas A., Ugalde-Noritz N., Vega A.Fuentes:scopusA novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype-phenotype correlations
ArticleAbstract: Background: Autosomal recessive congenital ichthyoses (ARCI) have been associated with different phePalabras claves:ABCA12 gene, Autosomal recessive congenital ichthyoses (ARCI), congenital ichthyosiform erythroderma (CIE), harlequin ichthyosis (HI), lamellar ichthyosis (LI), splice-site pathogenic variantAutores:Daniel Tettamanti-Miranda, Esperón-Moldes U.S., Fachal L., Ginarte M., Juan Carlos Ruiz, Martha Montalván-Suárez, Moscoso F., Ordoñez-Ugalde A., Rodríguez-Pazos L., Santomé L., Ugalde-Noritz N., Vega A.Fuentes:scopusThe geographic mosaic of Ecuadorian Y-chromosome ancestry
ArticleAbstract: Ecuadorians originated from a complex mixture of Native American indigenous people with Europeans anPalabras claves:Ancestry, ECUADOR, Population-stratification, Y-chromosomeAutores:A. Lupero, Ana Karina Zambrano, Anibal Gaviria, Carabajo-Marcillo A., Gómez-Carballa A., Margarita Vela, Martinón-Torres F., Moscoso F., Ordoñez-Ugalde A., Pardo-Seco J., S. Cobos, Salas A., Toscanini U., Ugalde-Noritz N., Yunga-León R.Fuentes:scopus