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

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Bibliographic Details
Published in:Digestive and liver disease 2017-10, Vol.49 (4), p.e249-e249
Main Authors: Poeta, M., Zielinska, K., Maccarana, M., Mandato, C., Ng, B.G., Di Nuzzi, A., D’Acunto, E., Pierri, L., Ecklund, E., Freeze, H., Vajro, P.
Format: Article
Language:English
Online Access:Get full text
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ISSN:1590-8658
1878-3562
DOI:10.1016/j.dld.2017.09.021