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4. Causative mutations and premature cardiovascular disease in patients with heterozygous familial hypercholesterolaemia. Rubba P, Gentile M, Marotta G, Iannuzzi A, Sodano M, De Simone B, Jossa F, Iannuzzo G, Giacobbe C, Di Taranto MD, Fortunato G. Eur J Prev Cardiol; 2017 Jul; 24(10):1051-1059. PubMed ID: 28353356 [Abstract] [Full Text] [Related]
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11. Use of the denaturing gradient gel electrophoresis (DGGE) method for mutational screening of patients with familial hypercholesterolaemia (FH) and Familial defective apolipoprotein B100 (FDB). Azian M, Hapizah MN, Khalid BA, Khalid Y, Rosli A, Jamal R. Malays J Pathol; 2006 Jun 28; 28(1):7-15. PubMed ID: 17694954 [Abstract] [Full Text] [Related]
14. Genetic diagnosis of familial hypercholesterolaemia using a rapid biochip array assay for 40 common LDLR, APOB and PCSK9 mutations. Martin R, Latten M, Hart P, Murray H, Bailie DA, Crockard M, Lamont J, Fitzgerald P, Graham CA. Atherosclerosis; 2016 Nov 28; 254():8-13. PubMed ID: 27680772 [Abstract] [Full Text] [Related]
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18. Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemia. Alves AC, Etxebarria A, Soutar AK, Martin C, Bourbon M. Hum Mol Genet; 2014 Apr 01; 23(7):1817-28. PubMed ID: 24234650 [Abstract] [Full Text] [Related]
20. Cost-utility analysis of searching electronic health records and cascade testing to identify and diagnose familial hypercholesterolaemia in England and Wales. Crosland P, Maconachie R, Buckner S, McGuire H, Humphries SE, Qureshi N. Atherosclerosis; 2018 Aug 01; 275():80-87. PubMed ID: 29879685 [Abstract] [Full Text] [Related] Page: [Next] [New Search]