Research & Innovation
Publications
Reduction of Cellular Expression Levels Is a Common Feature of Functionally Affected Pendrin (SLC26A4) Protein Variants.
PMU Authors
Emanuele Bernardinelli, Charity Nofziger, Markus Paulmichl, Silvia Dossena
All Authors
Vanessa C S de Moraes, Emanuele Bernardinelli, Nathalia Zocal, Jhonathan A Fernandez, Charity Nofziger, Arthur M Castilho, Edi L Sartorato, Markus Paulmichl, Silvia Dossena
Journal association
MOLECULAR MEDICINE
Abstract
Keywords
INNER-EAR, ENLARGED VESTIBULAR AQUEDUCT, ALLELIC VARIANTS, PDS GENE, IODIDE EFFLUX, GENOTYPE-PHENOTYPE CORRELATION, ENDOPLASMIC-RETICULUM, NONSYNDROMIC HEARING-LOSS, MOLECULAR ANALYSIS, MUTATION