Forschung & Innovation
Publikationen
Functional characterization of wild-type and mutated pendrin (SLC26A4), the anion transporter involved in Pendred syndrome.
PMU Autor*innen
Silvia Dossena, Charity Nofziger, Markus Paulmichl
Alle Autor*innen
Silvia Dossena, Simona Rodighiero, Valeria Vezzoli, Charity Nofziger, Elisabetta Salvioni, Marta Boccazzi, Elisabeth Grabmayer, Guido Bottà, Giuliano Meyer, Laura Fugazzola, Paolo Beck-Peccoz, Markus Paulmichl
Fachzeitschrift
JOURNAL OF MOLECULAR ENDOCRINOLOGY
Kurzfassung
Keywords
INNER-EAR, VESTIBULAR AQUEDUCT, INTERCALATED CELLS, HEARING-LOSS, IODIDE EFFLUX, INTRAFAMILIAL VARIABILITY, SYNDROME GENE PDS, MOLECULAR ANALYSIS, SPLICE-SITE MUTATION, CONGENITAL DEAFNESS