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. 2005 Feb 8;6:6. doi: 10.1186/1471-2350-6-6

Figure 3.

Figure 3

Detection of mutation c.1291-1331del41 (mutation FsV409:S423X) of the LDL receptor gene by means of PCR product sizing and heteroduplex analysis. Deletion of 41 nucleotides results in significant change (indicated by C) of molecular weight of the PCR-amplified LDL receptor gene exon 9 fragment and in formation of specific heteroduplexes (indicated by A). Letter B indicates the PCR product of normal size. Current gel supports the presence of c.1291-1331del41 mutation in two children (3-2, 3-3) of the proband (3-1) and absence of this mutation in his daughter and grandson (3–4, 3–5). *total blood serum cholesterol figures of the patients – at the bottom of the gel in mg/dl.