Reduction of cellular expression levels is a common feature of functionally affected pendrin (SLC26A4) protein variants

Reduction of cellular expression levels is a common feature of functionally affected pendrin (SLC26A4) protein variants

Vanessa C S de Moraes, Emanuele Bernardinelli, Nathalia Zocal, Jhonathan A Fernandez, Charity Nofziger, Arthur M Castilho, Edi L Sartorato, Markus Paulmichl, Silvia Dossena

ARTIGO

Inglês

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...

FUNDAÇÃO DE AMPARO À PESQUISA DO ESTADO DE SÃO PAULO - FAPESP

COORDENAÇÃO DE APERFEIÇOAMENTO DE PESSOAL DE NÍVEL SUPERIOR - CAPES

Fechado

Reduction of cellular expression levels is a common feature of functionally affected pendrin (SLC26A4) protein variants

Vanessa C S de Moraes, Emanuele Bernardinelli, Nathalia Zocal, Jhonathan A Fernandez, Charity Nofziger, Arthur M Castilho, Edi L Sartorato, Markus Paulmichl, Silvia Dossena

										

Reduction of cellular expression levels is a common feature of functionally affected pendrin (SLC26A4) protein variants

Vanessa C S de Moraes, Emanuele Bernardinelli, Nathalia Zocal, Jhonathan A Fernandez, Charity Nofziger, Arthur M Castilho, Edi L Sartorato, Markus Paulmichl, Silvia Dossena

    Fontes

    Molecular medicine

    Vol. 22 (Jan., 2016), p. 41-53