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Familial hypercholesterolemia. Acceptor splice site (G-->C) mutation in intron 7 of the LDL-R gene: alternate RNA editing causes exon 8 skipping or a premature stop codon in exon 8. LDL-R(Honduras-1) [LDL-R1061(-1) G-->C].
Yu L, Heere-Ress E, Boucher B, Defesche JC, Kastelein J, Lavoie MA, Genest J Jr. Yu L, et al. Among authors: genest j jr. Atherosclerosis. 1999 Sep;146(1):125-31. doi: 10.1016/s0021-9150(99)00109-4. Atherosclerosis. 1999. PMID: 10487495
Genetic lipoprotein disorders and coronary atherosclerosis.
Alawadhi M, Thanassoulis G, Marcil M, Genest J. Alawadhi M, et al. Among authors: genest j. Curr Atheroscler Rep. 2005 May;7(3):196-203. doi: 10.1007/s11883-005-0006-4. Curr Atheroscler Rep. 2005. PMID: 15811253 Review.
987 results