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Rapid whole-genome sequencing identifies a novel AIRE variant associated with autoimmune polyendocrine syndrome type 1
Autoimmune polyendocrine syndrome type 1 (APS-1; OMIM #240300), also referred to as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), is a rare monogenic autoimmune disorder caused by mutations in the autoimmune regulator (AIRE) gene. APS-1 is classically characterized by a tr...
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| Udgivet i: | Cold Spring Harb Mol Case Stud |
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| Main Authors: | , , , , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Cold Spring Harbor Laboratory Press
2018
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5983174/ https://ncbi.nlm.nih.gov/pubmed/29437776 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a002485 |
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