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CCDC115-CDG: A new rare and misleading inherited cause of liver disease.

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1 Published in 2018 at "Molecular genetics and metabolism"

DOI: 10.1016/j.ymgme.2018.05.002

Abstract: Congenital disorders of glycosylation (CDG) linked to defects in Golgi apparatus homeostasis constitute an increasing part of these rare inherited diseases. Among them, COG-CDG, ATP6V0A2-CDG, TMEM199-CDG and CCDC115-CDG have been shown to disturb Golgi vesicular… read more here.

Keywords: liver disease; cdg; ccdc115 cdg;