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Title: Copy number variation of beta-defensins and relevance to disease.
Authors: Hollox, EJ
First Published: 2008
Citation: CYTOGENET GENOME RES, 2008, 123 (1-4), pp. 148-155
Abstract: Beta-defensins are multifunctional proteins that have an important role in the innate immune system. A cluster of beta-defensin genes shows common and extensive variation in copy number in humans. This copy number has been associated with differing susceptibility to Crohn's disease and psoriasis. In this review, I summarise what is currently known about copy number variation (CNV) of beta-defensins, and discuss practical considerations when studying these genes, and copy number variation in general. I also suggest future directions for research, with an emphasis on improvement of methods for accurately typing CNV.
DOI Link: 10.1159/000184702
eISSN: 1424-859X
Type: Journal Article
Appears in Collections:Published Articles, Dept. of Genetics

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