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...

Description complète

Enregistré dans:
Détails bibliographiques
Publié dans:Cell Mol Gastroenterol Hepatol
Auteurs principaux: 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
Langue:Inglês
Publié: Elsevier 2015
Sujets:
Original Research
Accès en ligne: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
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!

Documents similaires