Three patients with glycosylation deficiencies, chronically elevated transaminases, and low serum ceruloplasmin and copper, caused by mutations in the gene encoding the transmembrane protein TMEM199

Autor:	E. D’Acunto, H. Freeze, A. Di Nuzzi, Pietro Vajro, B.G. Ng, M. Maccarana, K. Zielinska, Claudia Mandato, Marco Poeta, E. Ecklund, Luca Pierri
Rok vydání:	2017
Předmět:	Glycosylation Hepatology Gastroenterology chemistry.chemical_element Biology medicine.disease Copper Transmembrane protein chemistry.chemical_compound Low serum ceruloplasmin chemistry Biochemistry medicine Elevated transaminases Gene
Zdroj:	Digestive and Liver Disease. 49:e249
ISSN:	1590-8658
DOI:	10.1016/j.dld.2017.09.021
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::3b3e71dc9573dd5a3ff34e52f655f0e2 https://doi.org/10.1016/j.dld.2017.09.021 Zobrazit plný text záznamu Full Text from ScienceDirect