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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Detalhes bibliográficos
Main Authors: Behar, Doron M., Basel-Vanagaite, Lina, Glaser, Fabian, Kaplan, Marielle, Tzur, Shay, Magal, Nurit, Eidlitz-Markus, Tal, Haimi-Cohen, Yishay, Sarig, Galit, Bormans, Concetta, Shohat, Mordechai, Zeharia, Avraham
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society for Biochemistry and Molecular Biology 2014
Assuntos:
Patient-Oriented and Epidemiological Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3886669/
https://ncbi.nlm.nih.gov/pubmed/24262094
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1194/jlr.P041103
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