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Page 1
Genetics of lipid disorders.
Pirruccello J, Kathiresan S. Pirruccello J, et al. Curr Opin Cardiol. 2010 May;25(3):238-42. doi: 10.1097/HCO.0b013e328338574d. Curr Opin Cardiol. 2010. PMID: 20224388 Free PMC article. Review.
Defective Lipid Droplet-Lysosome Interaction Causes Fatty Liver Disease as Evidenced by Human Mutations in TMEM199 and CCDC115.
Larsen LE, van den Boogert MAW, Rios-Ocampo WA, Jansen JC, Conlon D, Chong PLE, Levels JHM, Eilers RE, Sachdev VV, Zelcer N, Raabe T, He M, Hand NJ, Drenth JPH, Rader DJ, Stroes ESG, Lefeber DJ, Jonker JW, Holleboom AG. Larsen LE, et al. Cell Mol Gastroenterol Hepatol. 2022;13(2):583-597. doi: 10.1016/j.jcmgh.2021.09.013. Epub 2021 Oct 7. Cell Mol Gastroenterol Hepatol. 2022. PMID: 34626841 Free PMC article.
Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia.
Musunuru K, Pirruccello JP, Do R, Peloso GM, Guiducci C, Sougnez C, Garimella KV, Fisher S, Abreu J, Barry AJ, Fennell T, Banks E, Ambrogio L, Cibulskis K, Kernytsky A, Gonzalez E, Rudzicz N, Engert JC, DePristo MA, Daly MJ, Cohen JC, Hobbs HH, Altshuler D, Schonfeld G, Gabriel SB, Yue P, Kathiresan S. Musunuru K, et al. N Engl J Med. 2010 Dec 2;363(23):2220-7. doi: 10.1056/NEJMoa1002926. Epub 2010 Oct 13. N Engl J Med. 2010. PMID: 20942659 Free PMC article.
17 results