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423 related items for PubMed ID: 24234650
21. Genetic polymorphisms in LDLR, APOB, PCSK9 and other lipid related genes associated with familial hypercholesterolemia in Malaysia. Lye SH, Chahil JK, Bagali P, Alex L, Vadivelu J, Ahmad WA, Chan SP, Thong MK, Zain SM, Mohamed R. PLoS One; 2013; 8(4):e60729. PubMed ID: 23593297 [Abstract] [Full Text] [Related]
22. Leucine 10 allelic variant in signal peptide of PCSK9 increases the LDL cholesterol-lowering effect of statins in patients with familial hypercholesterolaemia. Pisciotta L, Sallo R, Rabacchi C, Wunsch A, Calandra S, Bertolini S. Nutr Metab Cardiovasc Dis; 2012 Oct; 22(10):831-5. PubMed ID: 21920719 [Abstract] [Full Text] [Related]
23. LDLR promoter variant and exon 14 mutation on the same chromosome are associated with an unusually severe FH phenotype and treatment resistance. Snozek CL, Lagerstedt SA, Khoo TK, Rubenfire M, Isley WL, Train LJ, Baudhuin LM. Eur J Hum Genet; 2009 Jan; 17(1):85-90. PubMed ID: 18648394 [Abstract] [Full Text] [Related]
24. Genetic defects causing familial hypercholesterolaemia: identification of deletions and duplications in the LDL-receptor gene and summary of all mutations found in patients attending the Hammersmith Hospital Lipid Clinic. Tosi I, Toledo-Leiva P, Neuwirth C, Naoumova RP, Soutar AK. Atherosclerosis; 2007 Sep; 194(1):102-11. PubMed ID: 17094996 [Abstract] [Full Text] [Related]
30. Genetic variation in APOB, PCSK9, and ANGPTL3 in carriers of pathogenic autosomal dominant hypercholesterolemic mutations with unexpected low LDL-Cl Levels. Huijgen R, Sjouke B, Vis K, de Randamie JS, Defesche JC, Kastelein JJ, Hovingh GK, Fouchier SW. Hum Mutat; 2012 Feb; 33(2):448-55. PubMed ID: 22095935 [Abstract] [Full Text] [Related]
31. Genetic heterogeneity of autosomal dominant hypercholesterolemia in Mexico. Robles-Osorio L, Huerta-Zepeda A, Ordóñez ML, Canizales-Quinteros S, Díaz-Villaseñor A, Gutiérrez-Aguilar R, Riba L, Huertas-Vázquez A, Rodríguez-Torres M, Gómez-Díaz RA, Salinas S, Ongay-Larios L, Codiz-Huerta G, Mora-Cabrera M, Mehta R, Gómez Pérez FJ, Rull JA, Rabès JP, Tusié-Luna MT, Durán-Vargas S, Aguilar-Salinas CA. Arch Med Res; 2006 Jan; 37(1):102-8. PubMed ID: 16314194 [Abstract] [Full Text] [Related]
32. Detection of mutations and large rearrangements of the low-density lipoprotein receptor gene in Taiwanese patients with familial hypercholesterolemia. Chiou KR, Charng MJ. Am J Cardiol; 2010 Jun 15; 105(12):1752-8. PubMed ID: 20538126 [Abstract] [Full Text] [Related]
33. The molecular basis of familial hypercholesterolemia in Lebanon: spectrum of LDLR mutations and role of PCSK9 as a modifier gene. Abifadel M, Rabès JP, Jambart S, Halaby G, Gannagé-Yared MH, Sarkis A, Beaino G, Varret M, Salem N, Corbani S, Aydénian H, Junien C, Munnich A, Boileau C. Hum Mutat; 2009 Jul 15; 30(7):E682-91. PubMed ID: 19319977 [Abstract] [Full Text] [Related]
34. The molecular basis of familial hypercholesterolemia in the Czech Republic: spectrum of LDLR mutations and genotype-phenotype correlations. Tichý L, Freiberger T, Zapletalová P, Soška V, Ravčuková B, Fajkusová L. Atherosclerosis; 2012 Aug 15; 223(2):401-8. PubMed ID: 22698793 [Abstract] [Full Text] [Related]
35. Refinement of variant selection for the LDL cholesterol genetic risk score in the diagnosis of the polygenic form of clinical familial hypercholesterolemia and replication in samples from 6 countries. Futema M, Shah S, Cooper JA, Li K, Whittall RA, Sharifi M, Goldberg O, Drogari E, Mollaki V, Wiegman A, Defesche J, D'Agostino MN, D'Angelo A, Rubba P, Fortunato G, Waluś-Miarka M, Hegele RA, Aderayo Bamimore M, Durst R, Leitersdorf E, Mulder MT, Roeters van Lennep JE, Sijbrands EJ, Whittaker JC, Talmud PJ, Humphries SE. Clin Chem; 2015 Jan 15; 61(1):231-8. PubMed ID: 25414277 [Abstract] [Full Text] [Related]