A novel mutation in PNLIP causes pancreatic triglyceride lipase deficiency through protein misfolding

Szabó, AndrásXiao, XunjunHaughney, MargaretSpector, AlyssaSahin-Tóth, MiklósLowe, Mark E.2016-12-072016-12-072015Biochimica et Biophysica Acta (BBA). Molecular Basis of Disease. -1852 : 7 (2015), p. 1372-1379. -Biochim. Biophys. Acta. Mol. Basis Dis. - 0925-44390925-4439http://hdl.handle.net/2437/233083CC BY-NC-ND 4.0A novel mutation in PNLIP causes pancreatic triglyceride lipase deficiency through protein misfoldingfolyóiratcikkopen access pre-print és post-print (12h embargó)http://webpac.lib.unideb.hu:8082/ebib/CorvinaWeb?action=cclfind&resultview=long&ccltext=idno+BIBFORM066355OrvostudományokElméleti orvostudományokhttp://linkinghub.elsevier.com/retrieve/pii/S0925443915001088Elsevierhttp://dx.doi.org/10.1016/j.bbadis.2015.04.0022018-09-21