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Keywords: AIRE gene
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Journal Articles
Mariella Valenzise, Alessandra Fierabracci, Marco Cappa, Paolo Porcelli, Roberto Barcellona, Filippo De Luca, Susi Barollo, Silvia Garelli, Corrado Betterle
Journal:
Hormone Research in Paediatrics
Horm Res Paediatr (2014) 82 (2): 127–132.
Published Online: 23 July 2014
... by the mutation of the AIRE gene on chromosome 21. To date, 8 Sicilian patients have been described and the R203X AIRE mutation was found to be the most common in this region. Aims: (1) To describe 7 additional Sicilian APECED patients and to review all 15 Sicilian APECED patients who have been investigated...
