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A case report and literature review: Identification of a novel AIRE gene mutation associated with Autoimmune Polyendocrine Syndrome Type 1 in East Asians

RATIONALE: Autoimmune polyendocrine syndrome type 1 (APS-1), also referred as the autoimmune polyendocrinopathy candidiasis-ectodermal dystrophy (APECED), is a rare autosomal inherited disease predominantly among Caucasians from Northern Europe. This syndrome is very rare in East Asian population. P...

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Detalles Bibliográficos
Autores principales: Yan, Zi, Gang, Xiaokun, Xie, Xiaona, Gao, Ying, Li, Zhuo, Wang, Guixia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7440052/
https://www.ncbi.nlm.nih.gov/pubmed/32358377
http://dx.doi.org/10.1097/MD.0000000000020000