Detection of large deletions in the LDL receptor gene with quantitative PCR methods-2

<p><b>Copyright information:</b></p><p>Taken from "Detection of large deletions in the LDL receptor gene with quantitative PCR methods"</p><p>BMC Medical Genetics 2005;6():15-15.</p><p>Published online 20 Apr 2005</p><p>PMCID:PMC1087844.</p><p>Copyright © 2005 Damgaard et al; licensee BioMed Central Ltd.</p> with the deletions described in the results section

Familial hypercholesterolemia in St.-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia-0

<p><b>Copyright information:</b></p><p>Taken from "Familial hypercholesterolemia in St.-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia"</p><p>BMC Medical Genetics 2005;6():6-6.</p><p>Published online 8 Feb 2005</p><p>PMCID:PMC551615.</p><p>Copyright © 2005 Zakharova et al; licensee BioMed Central Ltd.</p>t allele is shown at the bottom

Familial hypercholesterolemia in St.-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia-1

<p><b>Copyright information:</b></p><p>Taken from "Familial hypercholesterolemia in St.-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia"</p><p>BMC Medical Genetics 2005;6():6-6.</p><p>Published online 8 Feb 2005</p><p>PMCID:PMC551615.</p><p>Copyright © 2005 Zakharova et al; licensee BioMed Central Ltd.</p>ion. restriction enzyme test enables to confirm the presence of mutation Q12X identified by DNA sequencing in the proband (12-1) and in her son (12-2) and to exclude presence of the mutation in other relatives of the proband, including daughter (12-4) and grandchildren (12-3 and 12-5). Lengths of DNA restriction fragment are given at the left in bp and *total blood serum cholesterol figures of the patients – at the bottom of the gel in mg/dl

Familial hypercholesterolemia in St.-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia-2

<p><b>Copyright information:</b></p><p>Taken from "Familial hypercholesterolemia in St.-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia"</p><p>BMC Medical Genetics 2005;6():6-6.</p><p>Published online 8 Feb 2005</p><p>PMCID:PMC551615.</p><p>Copyright © 2005 Zakharova et al; licensee BioMed Central Ltd.</p>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