New Splice Site Acceptor Mutation in AIRE Gene in Autoimmune Polyendocrine Syndrome Type 1

Autoimmune polyglandular syndrome type 1 (APS-1, OMIM 240300) is a rare autosomal recessive disorder, characterized by the presence of at least two of three major diseases: hypoparathyroidism, Addison’s disease, and chronic mucocutaneous candidiasis. We aim to identify the molecular defects and inve...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Mora, Mireia, Hanzu, Felicia A., Pradas-Juni, Marta, Aranda, Gloria B., Halperin, Irene, Puig-Domingo, Manuel, Aguiló, Sira, Fernández-Rebollo, Eduardo
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Public Library of Science 2014
Pynciau:
Research Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4079332/
https://ncbi.nlm.nih.gov/pubmed/24988226
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0101616
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