Article
Homogeneous assay based on 52 primer sets to scan for mutations of the ABCA1 gene and its application in genetic analysis of a new patient with familial high-density lipoprotein deficiency syndrome.
Biochimica et biophysica acta - 27 Jul 2001
Lapicka-Bodzioch K, Bodzioch M, Krüll M, Kielar D, Probst M, Kiec B, Andrikovics H, Böttcher A, Hubacek J, Aslanidis C, Suttorp N, Schmitz G
Abstract excerpt
Familial high-density lipoprotein (HDL)-deficiency syndromes are caused by mutations of the ABCA1 gene, coding for the ATP-binding cassette transporter 1. We have developed a homogeneous assay based on 52 primer sets to amplify all 50 ABCA1 exons and approximately 1 kb of its promoter. The assay allows for convenient amplification of the gene from genomic DNA and easy mutational analysis through automatic...
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