Mutations in Plasmalemma Vesicle Associated Protein Result in Sieving Protein-Losing Enteropathy Characterized by Hypoproteinemia, Hypoalbuminemia, and Hypertriglyceridemia
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چکیده
منابع مشابه
Mutations in Plasmalemma Vesicle Associated Protein Result in Sieving Protein-Losing Enteropathy Characterized by Hypoproteinemia, Hypoalbuminemia, and Hypertriglyceridemia
BACKGROUND & AIMS METHODS Severe intestinal diseases observed in very young children are often the result of monogenic defects. We used whole exome sequencing (WES) to examine the genetic cause in a patient with a distinct severe form of protein losing enteropathy (PLE) characterized by hypoproteinemia, hypoalbuminemia, and hypertriglyceridemia. METHODS WES was performed at the Centre for App...
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ژورنال
عنوان ژورنال: Cellular and Molecular Gastroenterology and Hepatology
سال: 2015
ISSN: 2352-345X
DOI: 10.1016/j.jcmgh.2015.05.001