Article
Copy number analysis of complement C4A, C4B and C4A silencing mutation by real-time quantitative polymerase chain reaction.
PloS one - 1 Jan 2012
Paakkanen Riitta, Vauhkonen Hanna, Eronen Katja T, Järvinen Asko, Seppänen Mikko, Lokki Marja-Liisa
Abstract excerpt
Low protein levels and copy number variation (CNV) of the fourth component of human complement (C4A and C4B) have been associated with various diseases. High-throughput methods for analysing C4 CNV are available, but they commonly do not detect the most common C4A mutation, a silencing CT insertion (CTins) leading to low protein levels. We developed a SYBR® Green labelled real-time quantitative polymerase chain...
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