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Molecular analysis of APOB, SAR1B, ANGPTL3, and MTTP in patients with primary hypocholesterolemia in a clinical laboratory setting: Evidence supporting polygenicity in mutation-negative patients.
Blanco-Vaca F, Martin-Campos JM, Beteta-Vicente Á, Canyelles M, Martínez S, Roig R, Farré N, Julve J, Tondo M. Blanco-Vaca F, et al. Among authors: roig r. Atherosclerosis. 2019 Apr;283:52-60. doi: 10.1016/j.atherosclerosis.2019.01.036. Epub 2019 Feb 11. Atherosclerosis. 2019. PMID: 30782561
Autosomal dominant hypercholesterolemia in Catalonia: Correspondence between clinical-biochemical and genetic diagnostics in 967 patients studied in a multicenter clinical setting.
Martín-Campos JM, Plana N, Figueras R, Ibarretxe D, Caixàs A, Esteve E, Pérez A, Bueno M, Mauri M, Roig R, Martínez S, Pintó X, Masana L, Julve J, Blanco-Vaca F; Xarxa d’Unitats de Lípids i Arteriosclerosi (XULA). Martín-Campos JM, et al. Among authors: roig r. J Clin Lipidol. 2018 Nov-Dec;12(6):1452-1462. doi: 10.1016/j.jacl.2018.09.002. Epub 2018 Sep 7. J Clin Lipidol. 2018. PMID: 30293936
Polygenic Markers in Patients Diagnosed of Autosomal Dominant Hypercholesterolemia in Catalonia: Distribution of Weighted LDL-c-Raising SNP Scores and Refinement of Variant Selection.
Martín-Campos JM, Ruiz-Nogales S, Ibarretxe D, Ortega E, Sánchez-Pujol E, Royuela-Juncadella M, Vila À, Guerrero C, Zamora A, Soler I Ferrer C, Arroyo JA, Carreras G, Martínez-Figueroa S, Roig R, Plana N, Blanco-Vaca F, Xarxa d'Unitats de Lípids I Arteriosclerosi Xula. Martín-Campos JM, et al. Among authors: roig r. Biomedicines. 2020 Sep 15;8(9):353. doi: 10.3390/biomedicines8090353. Biomedicines. 2020. PMID: 32942679 Free PMC article.