Research & Innovation
Publications
Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA.
PMU Authors
Silvia Dossena, Charity Nofziger, Markus Paulmichl
All Authors
Alejandra Pera, Silvia Dossena, Simona Rodighiero, Marta Gandía, Guido Bottà, Giuliano Meyer, Felipe Moreno, Charity Nofziger, Concepción Hernández-Chico, Markus Paulmichl
Journal association
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
Abstract
Keywords
PROTEIN, MUTATIONS, ENLARGED VESTIBULAR AQUEDUCT, HEARING-LOSS, PDS GENE, IODIDE EFFLUX, INTRAFAMILIAL VARIABILITY, APICAL PORTER, 2 FAMILIES, DEAFNESS