Analysis of a deeply-phenotyped familial hypercholesterolemia cohort from Mexico shows a role for both rare and common alleles across known dyslipidemia genes and reveals structural variation in a novel locus
对来自墨西哥的一个经过深入表型分析的家族性高胆固醇血症队列的研究表明，已知血脂异常基因中的罕见等位基因和常见等位基因均发挥作用，并揭示了一个新的基因位点的结构变异。
期刊:Human Genomics
影响因子:4.3
doi:10.1186/s40246-025-00831-9
Katsanis, Nicholas; Mourtzi, Niki; Quinto-Cortés, Consuelo D; Martagon, Alexandro J; Ioannidis, Alexander G; De La Vega, Francisco M; Gulcher, Jeff; Lee, Ming Ta Michael; Faghihi, Mohammad A; Lopez-Pineda, Arturo; Moreno-Grau, Sonia; Montserrat, Daniel Mas; Barrabés, Míriam; Bonet, David; Fernandez, Pavel Salazar; Wall, Jeff; Moatamed, Babak; Mehta, Roopa; Galan-Ramirez, Gabriela A; Zubirán, Rafael; Elias-Lopez, Daniel; Tusié-Luna, Teresa; Aguilar-Salinas, Carlos A; Bustamante, Carlos D
