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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Autores principales: Riitta Paakkanen, Hanna Vauhkonen, Katja T Eronen, Asko Järvinen, Mikko Seppänen, Marja-Liisa Lokki
Formato: article
Lenguaje:EN
Publicado: Public Library of Science (PLoS) 2012
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Acceso en línea:https://doaj.org/article/87857a72f2eb4b2baace1b45cd3508af
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