TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation

Congenital disorders of glycosylation (CDGs) form a genetically and clinically heterogeneous group of diseases with aberrant protein glycosylation as a hallmark. A subgroup of CDGs can be attributed to disturbed Golgi homeostasis. However, identification of pathogenic variants is seriously complicat...

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Xehetasun bibliografikoak
Argitaratua izan da:Am J Hum Genet
Egile Nagusiak: Jansen, Jos C., Timal, Sharita, van Scherpenzeel, Monique, Michelakakis, Helen, Vicogne, Dorothée, Ashikov, Angel, Moraitou, Marina, Hoischen, Alexander, Huijben, Karin, Steenbergen, Gerry, van den Boogert, Marjolein A.W., Porta, Francesco, Calvo, Pier Luigi, Mavrikou, Mersyni, Cenacchi, Giovanna, van den Bogaart, Geert, Salomon, Jody, Holleboom, Adriaan G., Rodenburg, Richard J., Drenth, Joost P.H., Huynen, Martijn A., Wevers, Ron A., Morava, Eva, Foulquier, François, Veltman, Joris A., Lefeber, Dirk J.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Elsevier 2016
Gaiak:
Report
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC4746368/
https://ncbi.nlm.nih.gov/pubmed/26833330
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2015.12.011
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