Copy number analysis of complement C4A, C4B and C4A silencing mutation by real-time quantitative polymerase chain reaction.

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...

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Hlavní autoři:	Riitta Paakkanen, Hanna Vauhkonen, Katja T Eronen, Asko Järvinen, Mikko Seppänen, Marja-Liisa Lokki
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Public Library of Science (PLoS) 2012-01-01
Edice:	PLoS ONE
On-line přístup:	https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/22737222/pdf/?tool=EBI
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