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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Detalhes bibliográficos
Publicado no:Cold Spring Harb Mol Case Stud
Main Authors: Sanford, Erica, Watkins, Kelly, Nahas, Shareef, Gottschalk, Michael, Coufal, Nicole G., Farnaes, Lauge, Dimmock, David, Kingsmore, Stephen F.
Formato: Artigo
Idioma:Inglês
Publicado em: Cold Spring Harbor Laboratory Press 2018
Assuntos:
Rapid Communication
Acesso em linha: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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