A novel mutation in the pendrin gene associated with Pendred's syndrome

Clinical Endocrinology

Volumn 52, Issue 3, 2000, Pages 279-285

  Bogazzi, Fausto ^a,b   Raggi, Francesco ^a   Ultimieri, Federica ^a   Campomori, Alberto ^a   Cosci, Chiara ^a   Berrettini, Stefano ^b   Neri, Emanuele ^b   La Rocca, Roberto ^a   Ronca, Giovanni ^b   Martino, Enio ^a   Bartalena, Luigi ^a  

^a Dipto di Endocrinol e Metabolismo   (Italy)

^b UNIVERSITY OF PISA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CELL DNA; CELL PROTEIN; PENDRIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DIAGNOSTIC VALUE; DNA DETERMINATION; FAMILY STUDY; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; GOITER; HUMAN; HUMAN CELL; MALE; PENDRED SYNDROME; PERCEPTION DEAFNESS; PRIORITY JOURNAL; RADIODIAGNOSIS;

ADULT; CARRIER PROTEINS; EAR, INNER; FEMALE; GOITER; HEARING LOSS, SENSORINEURAL; HUMANS; IODIDES; MAGNETIC RESONANCE IMAGING; MALE; MEMBRANE TRANSPORT PROTEINS; PEDIGREE; POINT MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RESTRICTION MAPPING; SEQUENCE ANALYSIS, DNA; SYNDROME; TOMOGRAPHY, X-RAY COMPUTED;

EID: 0034023340     PISSN: 03000664     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2265.2000.00930.x     Document Type: Article

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