Non-functional alternative splicing caused by a Latino pathogenic variant in a case of PMM2-CDG

Publication date: September 2021Source: Molecular Genetics and Metabolism Reports, Volume 28Author(s): C.A. González-Domínguez, C.E. Villarroel, M. Rodríguez-Morales, S. Manrique-Hernández, A. González-Jaimes, F. Olvera-Rodriguez, K. Beutelspacher, C. Molina-Garay, K. Carrillo-Sánchez, L.L. Flores-Lagunes, M. Jiménez-Olivares, A. Muñoz-Rivas, M.E. Cruz-Muñoz, H.M. Mora-Montes, R. Salinas-Marín, C. Alaez-Verson, I. Martínez-Duncker

Source: Molecular Genetics and Metabolism Reports - July 3, 2021 Category: Genetics & Stem Cells Source Type: research