Functional characterization of wild-type and a mutated form of SLC26A4 identified in a patient with pendred syndrome

Cellular Physiology and Biochemistry

Volumn 17, Issue 5-6, 2006, Pages 245-256

  Dossena, Silvia ^a   Vezzoli, Valeria ^a   Cerutti, Nadia ^a   Bazzini, Claudia ^a   Tosco, Marisa ^a   Sironi, Chiara ^a   Rodighiero, Simona ^c   Meyer, Giuliano ^a   Fascio, Umberto ^c   Fürst, Johannes ^b   Ritter, Markus ^e   Fugazzola, Laura ^a   Persani, Luca ^a   Zorowka, Patrick ^b   Storelli, Carlo ^d   Beck Peccoz, Paolo ^a   Bottà, Guido ^a   Paulmichl, Markus ^a,b,f  

^a UNIVERSITY OF MILAN   (Italy)

^b INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^c CIMAINA   (Italy)

^d UNIVERSITY OF SALENTO   (Italy)

^e PARACELSUS MEDICAL UNIVERSITY   (Austria)

^f Paracelsus Private Medical University ^*  (Austria)

Author keywords

Chloride uptake; Chloride bicarbonate exchanger; DIDS; Ion transport; Niflumic acid; NPPB; Pendred syndrome; SLC26A4

Indexed keywords

4,4' DIISOTHIOCYANATOSTILBENE 2,2' DISULFONIC ACID; BICARBONATE CHLORIDE ANTIPORTER; CHLORIDE ION; GENE PRODUCT; MUTANT PROTEIN; NIFLUMIC ACID; ORGANIC CATION TRANSPORTER; PENDRIN; SLC26A4 PROTEIN; SLC26A4 S28R PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CELLULAR DISTRIBUTION; CHLORIDE TRANSPORT; CONTROLLED STUDY; GENE; GENE MUTATION; GOITER; HEARING LOSS; HUMAN; HUMAN CELL; HYPOTHYROIDISM; ION TRANSPORT; MOLECULAR CLONING; MUTAGENESIS; PATHOGENESIS; PENDRED SYNDROME; PRIORITY JOURNAL; PROTEIN FUNCTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SLC26A4 GENE;

EID: 33745338518     PISSN: 10158987     EISSN: None     Source Type: Journal    
DOI: 10.1159/000094137     Document Type: Article

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