Article
Assessment of a rapid-cycle PCR assay for the identification of the recurrent c.3421C>T mutation in the ABCC6 gene in pseudoxanthoma elasticum patients.
Laboratory investigation; a journal of technical methods and pathology - 1 Jan 2004
Götting Christian, Schulz Veronika, Hendig Doris, Grundt Alexander, Dreier Jens, Szliska Christiane, Brinkmann Thomas, Kleesiek Knut
Abstract excerpt
Pseudoxanthoma elasticum (PXE) is a heritable disorder of the connective tissue. Mutations in the ABCC6 gene could be linked to this disease and, just recently, the c.3421C>T mutation was also associated with a high risk of coronary artery disease. We have now developed new real-time PCR assays for the accurate and rapid determination of the c.3421C>T genotype. Using our new assay, we analyzed the presence of the...
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