A novel NKX2.1 mutation in a family with hypothyroidism and benign hereditary chorea

Thyroid

Volumn 18, Issue 9, 2008, Pages 1005-1009

  Ferrara, Alfonso Massimiliano ^a   De Michele, Giuseppe ^a   Salvatore, Elena ^a   Di Maio, Luigi ^a   Zampella, Emilia ^a   Capuano, Serena ^a   Del Prete, Giuseppina ^a   Rossi, Giuseppina ^a   Fenzi, Gianfranco ^a   Filla, Alessandro ^a   Macchia, Paolo Emidio ^a  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; CYTOSINE;

BENIGN HEREDITARY CHOREA; CASE REPORT; CELL NUCLEUS; CHOREA; CODON; CONFERENCE PAPER; CYTOPLASM; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC DISORDER; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HYPOTHYROIDISM; KIDNEY SCINTISCANNING; MALE; MOLECULAR DYNAMICS; NKX2.5 GENE; PAX8 GENE; PHENOTYPE; POSITIVE END EXPIRATORY PRESSURE; PRESCHOOL CHILD; PRIORITY JOURNAL; RESPIRATORY DISTRESS; TAZ GENE; VESICOURETERAL REFLUX;

CHOREA; FAMILY HEALTH; FEMALE; HETEROZYGOTE; HOMEODOMAIN PROTEINS; HUMANS; HYPOTHYROIDISM; MALE; MODELS, GENETIC; MUTATION; NUCLEAR PROTEINS; PAIRED BOX TRANSCRIPTION FACTORS; RESPIRATION DISORDERS; SEQUENCE ANALYSIS, DNA; TRANSCRIPTION FACTORS;

EID: 51849107486     PISSN: 10507256     EISSN: None     Source Type: Journal    
DOI: 10.1089/thy.2008.0085     Document Type: Conference Paper

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