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Filtros aplicados
Subtipo de publicación
Article(2)
Publisher
Molecular Genetics and Genomic Medicine(1)
Nature Publishing GroupHoundmillsBasingstoke, HampshireRG21 6XS(1)
Scientific Reports(1)
Objetivos de Desarrollo Sostenible
ODS 10: Reducción de las desigualdades(2)
ODS 17: Alianzas para lograr los objetivos(2)
ODS 3: Salud y bienestar(2)
Año de Publicación
2019(2)
Origen
scopus(2)
A 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:scopusBiogeographical 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:scopus