Identification through exome sequencing of the first PMM2-CDG individual of Mexican mestizo origin

by C.A. González-Domínguez, A. Raya-Trigueros, S. Manrique-Hernández, A. González Jaimes, R. Salinas-Marín, C. Molina-Garay, K. Carrillo-Sánchez, L.L. Flores-Lagunes, M. Jiménez-Olivares, C. Dehesa-Caballero, C. Alaez-Versón, I. Martínez-Duncker
Published 2020-12-01

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

by 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
Published 2021-09-01