The common truncation variant in pancreatic lipase related protein 2 (PNLIPRP2) is expressed poorly and does not alter risk for chronic pancreatitis

A nonsense variant (p.W358X) of human pancreatic lipase related protein 2 (PNLIPRP2) is present in different ethnic populations with a high allele frequency. In cell culture experiments, the truncated protein mainly accumulates inside the cells and causes endoplasmic reticulum stress. Here, we teste...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:PLoS One
Prif Awduron: Németh, Balázs Csaba, Pesei, Zsófia Gabriella, Hegyi, Eszter, Szücs, Ákos, Szentesi, Andrea, Hegyi, Péter, Lowe, Mark E., Sahin-Tóth, Miklós
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Public Library of Science 2018
Pynciau:
Research Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC6226108/
https://ncbi.nlm.nih.gov/pubmed/30408063
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0206869
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