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...
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| Auteurs principaux: | , , , , , , , |
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| Format: | article |
| Langue: | EN |
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Public Library of Science (PLoS)
2014
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| Accès en ligne: | https://doaj.org/article/c57a4f8361944501b7b6245ac91216f8 |
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