Identification and functional studies of two new dual-oxidase 2 (DUOX2) mutations in a child with congenital hypothyroidism and a eutopic normal-size thyroid gland

Journal of Clinical Endocrinology and Metabolism

Volumn 94, Issue 11, 2009, Pages 4309-4314

  Tonacchera, Massimo ^a   De Marco, Giuseppina ^a   Agretti, Patrizia ^a   Montanelli, Lucia ^a   Di Cosmo, Caterina ^a   Ferreira, Andrea Claudia Freitas ^b   Dimida, Antonio ^a   Ferrarini, Eleonora ^a   Ramos, Helton Estrela ^c   Ceccarelli, Claudia ^a   Brozzi, Federica ^a   Pinchera, Aldo ^a   Vitti, Paolo ^a  

^a UNIVERSITY OF PISA   (Italy)

^b FEDERAL UNIVERSITY OF RIO DE JANEIRO   (Brazil)

^c FEDERAL UNIVERSITY OF PARANÁ   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

HYDROGEN PEROXIDE; IODINE 123; LEVOTHYROXINE; PERCHLORATE; THYROID PEROXIDASE;

ADOLESCENT; ARTICLE; CASE REPORT; CONGENITAL HYPOTHYROIDISM; DUAL OXIDASE 2 GENE; EUKARYOTE; FEMALE; GENE; GENE EXPRESSION; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENOTYPE; HELA CELL; HETEROZYGOSITY; HORMONAL THERAPY; HUMAN; HUMAN CELL; MUTANT; MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SCINTIGRAPHY; SUBSTITUTION REACTION; THYROID GLAND;

EUKARYOTA;

EID: 70449135233     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2009-0426     Document Type: Article

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