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

• Principais autores: Vanessa C S de Moraes (Autor), Emanuele Bernardinelli (Autor), Nathalia Zocal (Autor), Jhonathan A Fernandez (Autor), Charity Nofziger (Autor), Arthur M Castilho (Autor), Edi L Sartorato (Autor), Markus Paulmichl (Autor), Silvia Dossena (Autor)
• Formato: Livro
• Publicado em: BMC, 2016-01-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

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...