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TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation
American journal of human genetics, 04-02-2016, 98 (2), 322-330Article dans une revue scientifique -
CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation
American journal of human genetics, 04-02-2016, 98 (2), 310-321Article dans une revue scientifique