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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Vydáno v:Mol Med
Hlavní autoři: de Moraes, Vanessa C S, Bernardinelli, Emanuele, Zocal, Nathalia, Fernandez, Jhonathan A, Nofziger, Charity, Castilho, Arthur M, Sartorato, Edi L, Paulmichl, Markus, Dossena, Silvia
Médium: Artigo
Jazyk:Inglês
Vydáno: Feinstein Institute for Medical Research 2016
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Research Article
On-line přístup: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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