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[Identification of novel missense mutation G571E, novel silent mutation H229H, nonsense mutation C74X, and four single nucleotide polymorphisms in the low-density lipoprotein receptor in patients with familial hypercholesterolemia from St. Petersburg].
Zakharova FM, Golubkov VI, Mandel'shtam MIu, Lipovetskiĭ BM, Gaĭtskhoki VS. Zakharova FM, et al. Bioorg Khim. 2001 Sep-Oct;27(5):393-6. doi: 10.1023/a:1012300632671. Bioorg Khim. 2001. PMID: 11641914 Russian.