Identification of a novel mutation in the PNLIP gene in two brothers with congenital pancreatic lipase deficiency

Identification of a novel mutation in the PNLIP gene in two brothers with congenital pancreatic lipase deficiency

Congenital pancreatic lipase (PNLIP) deficiency is a rare monoenzymatic form of exocrine pancreatic failure characterized by decreased absorption of dietary fat and greasy voluminous stools, but apparent normal development and an overall good state of health. While considered to be an autosomal rece...

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Bibliographic Details
Main Authors: Doron M. Behar, Lina Basel-Vanagaite, Fabian Glaser, Marielle Kaplan, Shay Tzur, Nurit Magal, Tal Eidlitz-Markus, Yishay Haimi-Cohen, Galit Sarig, Concetta Bormans, Mordechai Shohat, Avraham Zeharia
Format: Article
Language:English
Published: Elsevier 2014-02-01
Series:Journal of Lipid Research
Subjects:
dietary fat
absorption
consanguineous
Arab
Online Access:http://www.sciencedirect.com/science/article/pii/S0022227520350380

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http://www.sciencedirect.com/science/article/pii/S0022227520350380

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