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