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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:scopusThe variant E233G of the rad51d gene could be a low-penetrance allele in high-risk breast cancer families without BRCA1/2 mutations
ArticleAbstract: Six SNPs have been detected in the DNA repair genes RAD51C and RAD51D, not previously characterized.Palabras claves:BRCA1/2, Breast Cancer, RAD51DAutores:Alonso C., Arias J.I., Armengod M.E., Azcorra M.U., Benitez J., Caldés T., Carracedo Á., De la Hoya M., Díez O., Esteban-Cardeñosa E., González-Sarmiento R., Letón R., Martínez J.I., Miner C., Osorio A., Pollán M., Raquel Salazar-Lugo, Ribas G., Rodríguez-López R., Ruibal A., Sánchez-Pulido L., Vega A., Zamora P.Fuentes:scopus