Paracelsus Medizinische Privatuniversität (PMU)

Research & Innovation
Publications

Reduction of Cellular Expression Levels Is a Common Feature of Functionally Affected Pendrin (SLC26A4) Protein Variants.

#2016
#MOLECULAR MEDICINE

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