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A novel compound heterozygous mutation of the AIRE gene in a patient with autoimmune polyendocrine syndrome type 1
Junghwan Suh, Han Saem Choi, Ahreum Kwon, Hyun Wook Chae, Jin-Sung Lee, Ho-Seong Kim
Ann Pediatr Endocrinol Metab. 2019;24(4):248-252.   Published online December 31, 2019
DOI: https://doi.org/10.6065/apem.2019.24.4.248

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A novel compound heterozygous mutation of the AIRE gene in a patient with autoimmune polyendocrine syndrome type 1
Annals of Pediatric Endocrinology & Metabolism. 2019;24(4):248-252   Crossref logo
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A novel heterozygous mutation of the AIRE gene in a patient with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED)
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A Functional Alternative Splicing Mutation in AIRE Gene Causes Autoimmune Polyendocrine Syndrome Type 1
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Novel mutation in AIRE gene with autoimmune polyendocrine syndrome type 1
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A novel AIRE mutation leads to autoimmune polyendocrine syndrome type-1
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Distinct Clinical Phenotype and Immunoreactivity in Japanese Siblings with Autoimmune Polyglandular Syndrome Type 1 (APS-1) Associated with Compound Heterozygous Novel AIRE Gene Mutations
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Novel Pathogenic Variants of the AIRE Gene in Two Autoimmune Polyendocrine Syndrome Type I Cases with Atypical Presentation: Role of the NGS in Diagnostic Pathway and Review of the Literature
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Autoimmune polyendocrine syndrome type 1 (APS-1) as a model for understanding autoimmune polyendocrine syndrome type 2 (APS-2)
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