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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Bibliografski detalji
Izdano u:Mol Med
Glavni autori: 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
Jezik:Inglês
Izdano: Feinstein Institute for Medical Research 2016
Teme:
Research Article
Online pristup: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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