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