A novel compound heterozygous mutation of the gene in a patient with autoimmune polyendocrine syndrome type 1
Autoimmune polyendocrine syndrome type 1 (APS-1), or autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy is a rare, autosomal recessive autoimmune disease caused by a mutation of the autoimmune regulator (AIRE) gene. The main symptom triad in APS-1 comprises chronic mucocutaneous candidia...
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| Main Authors: | , , , , , |
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| Format: | Book |
| Published: |
Korean Society of Pediatric Endocrinology,
2019-12-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |