ea0035p108 | Calcium and Vitamin D metabolism | ECE2014
Vakili Rahim
, Manshadi Hossain Dehghan
, Abbaszadegan Mohhamad Reza
, Ghaemi Nosrat
, Ghaemi Marta
Autoimmune pollyendocine type 1 (APS1) is a rare inherited autosomal recessive disorder. Typical symptom appears in within the first decade of life and followed by adrenocortical insufficiency, mucocutaneous candidiasis, Addisons disease, and hypoparathyroidism. The clinical phenotype of APECEP is depends on mutations in autoimmune regulator gene (AIRE) which mapped to chromosome 21q22.3. We analyzed AIRE gene in subject to identify AIRE gene variants a...