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pro vyhledávání: '"Maria Nieves Gonzalez-Bravo"'
Autor:
Elisabeth García-Pelegrí, Sergi Beltran, Joaquín Dopazo, Frederic Tort, Silvia M. Vidal, Francisco García-García, Miren Bravo, Maria Nieves Gonzalez-Bravo, Marisa Giros, Ester Quintana, Antonia Ribes, François Foulquier, Pedro Fuster-Jorge, Gustavo Egea, Paz Briones, Gert Matthijs, Olatz Ugarteburu, Maria Llambrich, Philippa B. Mills, Leslie Matalonga, Carla Serra-Peinado
Publikováno v:
Human Mutation. 38:148-151
Congenital disorders of glycosylation (CDG) are a heterogeneous and rapidly growing group of diseases caused by abnormal glycosylation of proteins and/or lipids. Mutations in genes involved in the homeostasis of the endoplasmic reticulum (ER), the Go