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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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Detalles Bibliográficos
Autores principales: Paakkanen, Riitta, Vauhkonen, Hanna, Eronen, Katja T., Järvinen, Asko, Seppänen, Mikko, Lokki, Marja-Liisa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3380926/
https://www.ncbi.nlm.nih.gov/pubmed/22737222
http://dx.doi.org/10.1371/journal.pone.0038813