Identification and functional analysis of novel dual oxidase 2 (DUOX2) mutations in children with congenital or subclinical hypothyroidism

Journal of Clinical Endocrinology and Metabolism

Volumn 96, Issue 8, 2011, Pages

  De Marco, Giuseppina ^a   Agretti, Patrizia ^a   Montanelli, Lucia ^a   Cosmo, Caterina Di ^a   Bagattini, Brunella ^a   De Servi, Melissa ^a   Ferrarini, Eleonora ^a   Dimida, Antonio ^a   Ferreira, Andrea Claudia Freitas ^a   Molinaro, Angelo ^a   Ceccarelli, Claudia ^a   Brozzi, Federica ^a   Pinchera, Aldo ^a   Vitti, Paolo ^a   Tonacchera, Massimo ^a  

^a UNIVERSITY OF PISA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

DUAL OXIDASE 2; DUAL OXIDASE MATURATION FACTOR 2; HYDROGEN PEROXIDE; IODINE 123; LEVOTHYROXINE; OXIDOREDUCTASE; PERCHLORATE; THYROID PEROXIDASE; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; CHILD; CLINICAL ARTICLE; CONGENITAL HYPOTHYROIDISM; DUOX2 GENE; DUOXA2 GENE; EUTHYROIDISM; FEMALE; GENE; GENE DELETION; GENE FUNCTION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC DISORDER; GENETIC POLYMORPHISM; HELA CELL; HUMAN; HUMAN CELL; HYPOTHYROIDISM; IN VITRO STUDY; ITALY; MALE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; THYROID SCINTISCANNING; TPO GENE;

ADULT; AGED; CHILD; CHILD, PRESCHOOL; CONGENITAL HYPOTHYROIDISM; FEMALE; GENE DELETION; HELA CELLS; HUMANS; MALE; MIDDLE AGED; NADPH OXIDASE; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; POINT MUTATION; SEVERITY OF ILLNESS INDEX; THYROID GLAND;

EID: 79961232941     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2010-2467     Document Type: Article

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