Characterization of a novel loss-of-function mutation of PAX8 associated with congenital hypothyroidism

Clinical Endocrinology

Volumn 73, Issue 6, 2010, Pages 808-814

  Di Palma, Tina ^a   Zampella, Emilia ^b   Filippone, Maria Grazia ^a,b   MacChia, Paolo Emidio ^b   Ris Stalpers, Carrie ^c   De Vroede, Monique ^d   Zannini, Mariastella ^a  

^a CNR   (Italy)

^b UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^c ACADEMIC MEDICAL CENTER   (Netherlands)

^d UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

GLUTAMINE; HISTIDINE; IODINE 123; MUTANT PROTEIN; THYROGLOBULIN; THYROGLOBULIN ANTIBODY; THYROTROPIN; THYROXINE; TRANSCRIPTION FACTOR PAX8;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; CONGENITAL HYPOTHYROIDISM; DISEASE TRANSMISSION; DNA BINDING; DNA SEQUENCE; ECHOGRAPHY; ELECTROPHORETIC MOBILITY; EXPRESSION VECTOR; FEMALE; GEL MOBILITY SHIFT ASSAY; GENE LOSS; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC TRANSCRIPTION; HETEROZYGOTE; HUMAN; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN FUNCTION; PROTEIN SYNTHESIS; THYROID DYSGENESIS; THYROID SCINTISCANNING; TRANSCRIPTION INITIATION; WESTERN BLOTTING;

ADULT; BLOTTING, WESTERN; CONGENITAL HYPOTHYROIDISM; FEMALE; HELA CELLS; HUMANS; INFANT, NEWBORN; MALE; MUTATION; PAIRED BOX TRANSCRIPTION FACTORS; YOUNG ADULT;

EID: 78649293974     PISSN: 03000664     EISSN: 13652265     Source Type: Journal    
DOI: 10.1111/j.1365-2265.2010.03851.x     Document Type: Article

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