Φορτώνει......
Identification and characterization of a novel DGAT1 missense mutation associated with congenital diarrhea
Acyl-CoA:diacylglycerol acyltransferase (DGAT)1 and DGAT2 catalyze triglyceride (TG) biosynthesis in humans. Biallelic loss-of-function mutations in human DGAT1 result in severe congenital diarrhea and protein-losing enteropathy. Additionally, pharmacologic inhibition of DGAT1 led to dose-related di...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | J Lipid Res |
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| Κύριοι συγγραφείς: | , , , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
The American Society for Biochemistry and Molecular Biology
2017
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5454518/ https://ncbi.nlm.nih.gov/pubmed/28373485 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1194/jlr.P075119 |
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