Reduction of Cellular Expression Levels Is a Common Feature of Functionally Affected Pendrin (SLC26A4) Protein Variants

• Hauptverfasser: Vanessa C S de Moraes (Verfasst von), Emanuele Bernardinelli (Verfasst von), Nathalia Zocal (Verfasst von), Jhonathan A Fernandez (Verfasst von), Charity Nofziger (Verfasst von), Arthur M Castilho (Verfasst von), Edi L Sartorato (Verfasst von), Markus Paulmichl (Verfasst von), Silvia Dossena (Verfasst von)
• Format: Buch
• Veröffentlicht: BMC, 2016-01-01T00:00:00Z.
• Schlagworte: article
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Abstract Sequence alterations in the pendrin gene (SLC26A4) leading to functionally affected protein variants are frequently involved in the pathogenesis of syndromic and nonsyndromic deafness. Considering the high number of SLC26A4 sequence alterations reported to date, discriminating between funct...