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Multi-institutional experience of genetic diagnosis in Ecuador: National registry of chromosome alterations and polymorphisms
ArticleAbstract: Background: Detection of chromosomal abnormalities is crucial in various medical areas; to diagnosePalabras claves:chromosome alterations, chromosome polymorphisms, Cytogenetics, Genetic testingAutores:Ana Karina Zambrano, Andrés López-Cortés, Andy Pérez-Villa, Arianne Llamos Paneque, Burgos R.I., Cesar Paz-y-Miño, Cruz F., Echeverría-Garcés G., Garzón-Castro M., Guapi N V.H., Isaac Armendáriz-Castillo, Jenny Álvarez Vidal, Jennyfer M. García-Cárdenas, Jiménez Torres I., Juan Carlos Ruiz-Cabezas, Lamar-Segura E., Licuy P., Martha Montalván, Meneses Álvarez S., Moreta G., Naranjo M.E., Ocampo L., Ochoa Pérez C., P. Guevara-Ramírez, Paola E. Leone, Paredes R., Porras-Borja F., Ramón Miguel Vargas-Vera, Recalde-Báez M.A., Ruiz M., Santiago Xavier Guerrero, Sinche M., Tambaco Jijón N., Verónica YumicebaFuentes:googlescopusMutational analysis of CFTR in the Ecuadorian population using next-generation sequencing
ArticleAbstract: The frequency distributions of cystic fibrosis variants are heterogeneous in Ecuador because of thePalabras claves:CF in Ecuador, CFTR variants, Microarrays, NGSAutores:Ana Karina Zambrano, Barros F., Burgos R.I., Castro A., Cesar Paz-y-Miño, Farhat C., Gustavo García, Juan Carlos Ruiz-Cabezas, Martha Montalván, Martínez M., Muñoz L., Sobrino B.Fuentes:scopusMutations in TGM1 in Ecuadorians with autosomal recessive congenital ichthyosis
OtherAbstract:Palabras claves:Autores:Cabezas J., Choate K., Lu Y., Martha Montalván, Milstone L.M., Yang C.S., Zambrano H.Fuentes:googlescopus