Congenital hyperthyroidism caused by a solitary toxic adenoma harboring a novel somatic mutation (Serine281→Isoleucine) in the extracellular domain of the thyrotropin receptor

Journal of Clinical Investigation

Volumn 100, Issue 6, 1997, Pages 1634-1639

  Kopp, Peter ^a   Muirhead, Sarah ^b,c   Jourdain, Nathalie ^b   Gu, Wen Xia ^a   Jameson, J Larry ^a   Rodd, Celia ^b  

^a NORTHWESTERN UNIVERSITY   (United States)

^b MONTREAL CHILDREN S HOSPITAL   (Canada)

^c CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

Author keywords

Congenital hyperthyroidism; Gene mutation; Toxic adenoma; TSH receptor

Indexed keywords

THYROTROPIN; THYROTROPIN RECEPTOR;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; GENE MUTATION; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; HYPERTHYROIDISM; MALE; PRIORITY JOURNAL; SUBTOTAL THYROIDECTOMY; THYROID ADENOMA; THYROID SCINTISCANNING;

EID: 0030830146     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI119687     Document Type: Article

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