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

We report on a Mexican mestizo with a multisystemic syndrome including neurological involvement and a type I serum transferrin isoelectric focusing (Tf IEF) pattern. Diagnosis of PMM2-CDG was obtained by clinical exome sequencing (CES) that revealed compound heterozygous variants in PMM2, the encodi...

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Detalles Bibliográficos
Autores principales: González-Domínguez, C.A., Villarroel, C.E., Rodríguez-Morales, M., Manrique-Hernández, S., González-Jaimes, A., Olvera-Rodriguez, F., Beutelspacher, K., Molina-Garay, C., Carrillo-Sánchez, K., Flores-Lagunes, L.L., Jiménez-Olivares, M., Muñoz-Rivas, A., Cruz-Muñoz, M.E., Mora-Montes, H.M., Salinas-Marín, R., Alaez-Verson, C., Martínez-Duncker, I.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8264207/
https://www.ncbi.nlm.nih.gov/pubmed/34277356
http://dx.doi.org/10.1016/j.ymgmr.2021.100781

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8264207/
https://www.ncbi.nlm.nih.gov/pubmed/34277356
http://dx.doi.org/10.1016/j.ymgmr.2021.100781

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