Mutations in Plasmalemma Vesicle Associated Protein Result in Sieving Protein-Losing Enteropathy Characterized by Hypoproteinemia, Hypoalbuminemia, and Hypertriglyceridemia

BACKGROUND & AIMS: Severe intestinal diseases observed in very young children are often the result of monogenic defects. We used whole-exome sequencing (WES) to examine genetics in a patient with a distinct severe form of protein-losing enteropathy (PLE) characterized by hypoproteinemia, hypoalb...

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Veröffentlicht in:Cell Mol Gastroenterol Hepatol
Hauptverfasser: Elkadri, Abdul, Thoeni, Cornelia, Deharvengt, Sophie J., Murchie, Ryan, Guo, Conghui, Stavropoulos, James D., Marshall, Christian R., Wales, Paul, Bandsma, Robert H.J., Cutz, Ernest, Roifman, Chaim M., Chitayat, David, Avitzur, Yaron, Stan, Radu V., Muise, Aleixo M.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Elsevier 2015
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Original Research
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4507283/
https://ncbi.nlm.nih.gov/pubmed/26207260
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jcmgh.2015.05.001
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