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8p23 beta-defensin copy number determination by single-locus pseudogene-based paralog ratio tests risk bias due to low-frequency sequence variations

BACKGROUND: The copy number variation (CNV) in beta-defensin genes (DEFB) on human chromosome 8p23 has been proposed to contribute to the phenotypic differences in inflammatory diseases. However, determination of exact DEFB CN is a major challenge in association studies. Quantitative real-time PCR (...

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Detalles Bibliográficos
Autores principales: Zhang, Xianghong, Müller, Sebastian, Möller, Michael, Huse, Klaus, Taudien, Stefan, Book, Malte, Stuber, Frank, Platzer, Matthias, Groth, Marco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3937106/
https://www.ncbi.nlm.nih.gov/pubmed/24460793
http://dx.doi.org/10.1186/1471-2164-15-64