Analysis of β-defensin and Toll-like receptor gene copy number variation in celiac disease
✍ Scribed by Nora Fernandez-Jimenez; Ainara Castellanos-Rubio; Leticia Plaza-Izurieta; Galder Gutierrez; Luis Castaño; Juan Carlos Vitoria; Jose Ramon Bilbao
- Book ID
- 116532734
- Publisher
- Elsevier Science
- Year
- 2010
- Tongue
- English
- Weight
- 303 KB
- Volume
- 71
- Category
- Article
- ISSN
- 0198-8859
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Beta-defensins are a family of multifunctional genes with roles in defense against pathogens, reproduction, and pigmentation. In humans, six beta-defensin genes are clustered in a repeated region which is copy-number variable (CNV) as a block, with a diploid copy number between 1 and 12. The role in
## Abstract Pelizaeus–Merzbacher‐like disease (PMLD) is a heterogeneous disease with primary hypomyelination of the central nervous system. Only the minority of patients have mutations in the coding region of the __GJA12__ gene encoding gap junction protein alpha 12, a subunit of intercellular chan