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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: The American Society for Biochemistry and Molecular Biology 2014
Materias:
Patient-Oriented and Epidemiological Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3886669/
https://www.ncbi.nlm.nih.gov/pubmed/24262094
http://dx.doi.org/10.1194/jlr.P041103

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3886669/
https://www.ncbi.nlm.nih.gov/pubmed/24262094
http://dx.doi.org/10.1194/jlr.P041103

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