Mutations in the SLC26A4 (pendrin) gene in patients with sensorineural deafness and enlarged vestibular aqueduct

Journal of Endocrinological Investigation

Volumn 27, Issue 5, 2004, Pages 430-435

  Bogazzi, F ^a   Russo, D ^a   Raggi, F ^a   Ultimieri, F ^a   Berrettini, S ^a   Forli, F ^a   Grasso, L ^a   Ceccarelli, C ^a   Mariotti, S ^b   Pinchera, A ^a   Bartalena, L ^c   Martino, E ^a  

^a UNIVERSITY OF PISA   (Italy)

^b UNIVERSITY OF CAGLIARI   (Italy)

^c UNIVERSITY OF INSUBRIA   (Italy)

Author keywords

Deafness; Pendred's syndrome; Pendrin; SLC26A4; Thyroid hormone synthesis

Indexed keywords

PENDRIN; PERCHLORATE; RADIOACTIVE IODINE; THYROGLOBULIN;

ADOLESCENT; ADULT; ALLELE; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; ECHOGRAPHY; EUTHYROIDISM; EXON; FEMALE; GENE AMPLIFICATION; GENE MUTATION; GENE SEQUENCE; GOITER; HETEROZYGOSITY; HUMAN; HYPOTHYROIDISM; INNER EAR DISEASE; INTRON; LEUKOCYTE; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PENDRED SYNDROME; PERCEPTION DEAFNESS; PHENOTYPIC VARIATION; STATISTICAL ANALYSIS; THYROGLOBULIN BLOOD LEVEL; THYROID DISEASE; THYROID FUNCTION; THYROID FUNCTION TEST; THYROID HORMONE SYNTHESIS; VESTIBULE AQUEDUCT;

EID: 3242685991     PISSN: 03914097     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF03345286     Document Type: Article

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