Iodide transport defect: Functional characterization of a novel mutation in the Na+/I- symporter 5′-untranslated region in a patient with congenital hypothyroidism

Journal of Clinical Endocrinology and Metabolism

Volumn 96, Issue 7, 2011, Pages

  Nicola, Juan Pablo ^a   Nazar, Magalí ^a   Serrano Nascimento, Caroline ^b   Goulart Silva, Francemilson ^b   Sobrero, Gabriela ^c   Testa, Graciela ^c   Nunes, Maria Tereza ^b   Muñoz, Liliana ^c   Miras, Mirta ^c   Masini Repiso, Ana María ^a  

^a UNIVERSIDAD NACIONAL DE CÓRDOBA   (Argentina)

^b UNIVERSITY OF SÃO PAULO   (Brazil)

^c Hospital de Ninos de la Santisima Trinidad   (Argentina)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOSINE; GENOMIC DNA; IODIDE; LEVOTHYROXINE; LIOTHYRONINE; MESSENGER RNA; SODIUM IODIDE SYMPORTER; THYMIDINE; THYROTROPIN; THYROXINE;

5' UNTRANSLATED REGION; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CELL STRAIN COS7; CONGENITAL HYPOTHYROIDISM; CONTROLLED STUDY; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC TRANSFECTION; HOMOZYGOSITY; HORMONE DETERMINATION; HUMAN; IN VITRO STUDY; INFANT; MALE; MOLECULAR MECHANICS; NEWBORN SCREENING; NIS GENE; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYSOME; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FUNCTION; SEQUENCE ANALYSIS; THYROID CELL; WILD TYPE;

5' UNTRANSLATED REGIONS; CONGENITAL HYPOTHYROIDISM; HUMANS; INFANT, NEWBORN; MALE; MUTATION; SYMPORTERS;

EID: 79960091818     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2011-0349     Document Type: Article

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