ALG1-CDG Caused by Non-functional Alternative Splicing Involving a Novel Pathogenic Complex Allele

This study reports on a Mexican mestizo patient with a multi-systemic syndrome including neurological involvement and a type I serum transferrin profile. Clinical exome sequencing revealed complex alleles in ALG1, the encoding gene for the chitobiosyldiphosphodolichol beta-mannosyltransferase that p...

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Detalles Bibliográficos
Autores principales: González-Domínguez, Carlos Alberto, Fiesco-Roa, Moisés O., Gómez-Carmona, Samuel, Kleinert-Altamirano, Anke Paula Ingrid, He, Miao, Daniel, Earnest James Paul, Raymond, Kimiyo M., Abreu-González, Melania, Manrique-Hernández, Sandra, González-Jaimes, Ana, Salinas-Marín, Roberta, Molina-Garay, Carolina, Carrillo-Sánchez, Karol, Flores-Lagunes, Luis Leonardo, Jiménez-Olivares, Marco, Muñoz-Rivas, Anallely, Cruz-Muñoz, Mario E., Ruíz-García, Matilde, Freeze, Hudson H., Mora-Montes, Héctor M., Alaez-Verson, Carmen, Martínez-Duncker, Iván
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8458739/
https://www.ncbi.nlm.nih.gov/pubmed/34567092
http://dx.doi.org/10.3389/fgene.2021.744884

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