Non-functional alternative splicing caused by a Latino pathogenic variant in a case of PMM2-CDG.
González-Domínguez CA, Villarroel CE, Rodríguez-Morales M, Manrique-Hernández S, González-Jaimes A, Olvera-Rodriguez F, Beutelspacher K, Molina-Garay C, Carrillo-Sánchez K, Flores-Lagunes LL, Jiménez-Olivares M, Muñoz-Rivas A, Cruz-Muñoz ME, Mora-Montes HM, Salinas-Marín R, Alaez-Verson C, Martínez-Duncker I.
González-Domínguez CA, et al. Among authors: villarroel ce.
Mol Genet Metab Rep. 2021 Jul 2;28:100781. doi: 10.1016/j.ymgmr.2021.100781. eCollection 2021 Sep.
Mol Genet Metab Rep. 2021.
PMID: 34277356
Free PMC article.