A novel mutation in PNLIP causes pancreatic triglyceride lipase deficiency through protein misfolding. [electronic resource]
Producer: 20150827Description: 1372-9 p. digitalISSN:- 0006-3002
- Animals
- Chaperonins -- genetics
- DNA-Binding Proteins -- genetics
- Endoplasmic Reticulum Stress
- HEK293 Cells
- Humans
- Lipase -- chemistry
- Lipid Metabolism, Inborn Errors -- genetics
- Mutation, Missense
- Protein Folding
- Rats
- Regulatory Factor X Transcription Factors
- Transcription Factors -- genetics
- X-Box Binding Protein 1
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Publication Type: Journal Article; Research Support, N.I.H., Extramural
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