Intragenic Copy Number Variation within Filaggrin Contributes to the Risk of Atopic Dermatitis with a Dose-Dependent Effect

Loss-of-function variants within the filaggrin gene (FLG) increase the risk of atopic dermatitis. FLG also demonstrates intragenic copy number variation (CNV), with alleles encoding 10, 11, or 12 filaggrin monomers; hence, CNV may affect the amount of filaggrin expressed in the epidermis. A total of...

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Autori principali: Brown, Sara J, Kroboth, Karin, Sandilands, Aileen, Campbell, Linda E, Pohler, Elizabeth, Kezic, Sanja, Cordell, Heather J, McLean, W H Irwin, Irvine, Alan D
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group 2012
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Original Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3236450/
https://ncbi.nlm.nih.gov/pubmed/22071473
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/jid.2011.342
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