Paracelsus Medizinische Privatuniversität (PMU)

Forschung & Innovation
Publikationen

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 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