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-R 1061(−1) G→C]
| Autor: | Yu, Lu, Heere-Ress, Elisabeth, Boucher, Betsie, Defesche, Joep C., Kastelein, John, Lavoie, Marc-André, Genest Jr, Jacques * |
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| Zdroj: | In Atherosclerosis 1999 146(1):125-131 |
| Databáze: | ScienceDirect |
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