| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 10956269 | Molecular and Cellular Endocrinology | 2012 | 9 Pages |
Abstract
⺠Genetic/functional analyzes of SLC26A4, FOXI1-DBD, FOXI1, and KCNJ10 in syndromic and non-syndromic deafness. ⺠SLC26A4 is the most frequently mutated gene in Pendred syndrome. ⺠Development of a more sensitive fluorometric functional assay for SLC26A4 mutations. ⺠Novel missense variant was found in FOXI1 gene.
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Authors
Valentina Cirello, Claudia Bazzini, Valeria Vezzoli, Marina Muzza, Simona Rodighiero, Pierangela Castorina, Antonia Maffini, Guido Bottà , Luca Persani, Paolo Beck-Peccoz, Giuliano Meyer, Laura Fugazzola,