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Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy: Insights into Genotype-Phenotype Correlation
Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is a rare autosomal recessive disease, caused by mutations of a single gene named autoimmune regulator gene (AIRE) which results in a failure of T cell tolerance within the thymus. Chronic mucocutaneous candidiasis, chronic hypo...
Autores principales: | Capalbo, Donatella, De Martino, Lucia, Giardino, Giuliana, Di Mase, Raffaella, Di Donato, Iolanda, Parenti, Giancarlo, Vajro, Pietro, Pignata, Claudio, Salerno, Mariacarolina |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi Publishing Corporation
2012
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3485503/ https://www.ncbi.nlm.nih.gov/pubmed/23133448 http://dx.doi.org/10.1155/2012/353250 |
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