Paracelsus Medizinische Privatuniversität (PMU)

Research & Innovation
Publications

Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA.

#2008
#PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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