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

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

Congenital Disorders of Glycosylation (CDG) are scarcely reported from Latin America. We here report on a Mexican mestizo with a multi-systemic syndrome including neurological involvement and a type I transferrin (Tf) isoelectric focusing (IEF) pattern. Clinical exome sequencing (CES) showed known c...

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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: Elsevier 2020-12-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
CDG
Glycosylation
Metabolism
PMM2
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426920300835

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http://www.sciencedirect.com/science/article/pii/S2214426920300835

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