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

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 functionally a...

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Veröffentlicht in:Mol Med
Hauptverfasser: de Moraes, Vanessa C S, Bernardinelli, Emanuele, Zocal, Nathalia, Fernandez, Jhonathan A, Nofziger, Charity, Castilho, Arthur M, Sartorato, Edi L, Paulmichl, Markus, Dossena, Silvia
Format: Artigo
Sprache:Inglês
Veröffentlicht: Feinstein Institute for Medical Research 2016
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Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5004711/
https://ncbi.nlm.nih.gov/pubmed/26752218
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2119/molmed.2015.00226
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