Molecular and functional characterization of human pendrin and its allelic variants

Cellular Physiology and Biochemistry

Volumn 28, Issue 3, 2011, Pages 451-466

  Dossena, Silvia ^a   Nofziger, Charity ^a   Tamma, Grazia ^b   Bernardinelli, Emanuele ^a   Vanoni, Simone ^a   Nowak, Christoph ^c,d   Grabmayer, Elisabeth ^a   Kössler, Sonja ^a   Stephan, Susanne ^a   Patsch, Wolfgang ^a   Paulmichl, Markus ^a  

^a PARACELSUS MEDICAL UNIVERSITY   (Austria)

^b UNIVERSITY OF BARI   (Italy)

^c AIT AUSTRIAN INSTITUTE OF TECHNOLOGY   (Austria)

^d NANYANG TECHNOLOGICAL UNIVERSITY   (Singapore)

Author keywords

Deafness; Functional test; Ion transport; Mutations; Pendred syndrome; Pendrin

Indexed keywords

COMPLEMENTARY RNA; PENDRIN;

AIRWAY; ALLELE; AUTOSOMAL RECESSIVE DISORDER; GENE MUTATION; GENETIC POLYMORPHISM; GENOTYPE; HEARING IMPAIRMENT; HUMAN; INNER EAR; ION TRANSPORT; KIDNEY; PENDRED SYNDROME; PERCEPTION DEAFNESS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM; THYROID GLAND; VESTIBULE AQUEDUCT;

EID: 82255167146     PISSN: 10158987     EISSN: 14219778     Source Type: Journal    
DOI: 10.1159/000335107     Document Type: Review

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