Delineation of the molecular defects in the AIRE gene in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients from Southern Italy.

@article{Meloni2002DelineationOT,
  title={Delineation of the molecular defects in the AIRE gene in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients from Southern Italy.},
  author={Alessandra Meloni Meloni and Roberto Perniola and Valeria Fa{\`a} and Enrico Corvaglia and Antonio Gasc{\'o}n Cao and Maria Cristina Rosatelli},
  journal={The Journal of clinical endocrinology and metabolism},
  year={2002},
  volume={87 2},
  pages={
          841-6
        }
}
In this study, we have carried out molecular analysis of the AIRE (autoimmune regulator) gene in 11 patients (from 8 families) affected by autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy, originating from a restricted area of Southern Italy (the Salento peninsula in Puglia). Of the 16 mutant AIRE alleles from the 8 probands studied, 12 carried a missense mutation (W78R in 9, P539L in 2, and P252L in 1), 2 carried the Q358X nonsense mutation, and 2 carried the 1058delT frameshift… CONTINUE READING
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