Exome sequencing links gene mutation in angiopoietin-like protein 3 with low-density lipoprotein cholesterol.
نویسنده
چکیده
1. 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. Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia. N Engl J Med. 2010;363(23):2220–2227. PMID: 20942659.
منابع مشابه
Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia.
We sequenced all protein-coding regions of the genome (the "exome") in two family members with combined hypolipidemia, marked by extremely low plasma levels of low-density lipoprotein (LDL) cholesterol, high-density lipoprotein (HDL) cholesterol, and triglycerides. These two participants were compound heterozygotes for two distinct nonsense mutations in ANGPTL3 (encoding the angiopoietin-like 3...
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عنوان ژورنال:
- Circulation. Cardiovascular genetics
دوره 4 1 شماره
صفحات -
تاریخ انتشار 2011