A novel mutation in the thyrotropin (TSH) receptor gene causing loss of TSH binding but constitutive receptor activation in a family with resistance to TSH

Journal of Clinical Endocrinology and Metabolism

Volumn 85, Issue 11, 2000, Pages 4238-4242

  Russo, D ^a   Betterle, C ^a   Arturi, F ^a   Chiefari, E ^a   Girelli, M E ^a   Filetti, S ^a  

^a Policlinico Mater Domini   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIC AMP; THYROID HORMONE; THYROTROPIN; THYROTROPIN RECEPTOR;

ADULT; ARTICLE; CHO CELL; CLINICAL ARTICLE; EUTHYROIDISM; FEMALE; GENE MUTATION; HETEROZYGOSITY; HOMOZYGOSITY; HORMONE RECEPTOR INTERACTION; HORMONE RESISTANCE; HUMAN; MALE; PRIORITY JOURNAL; THYROTROPIN BLOOD LEVEL;

AMINO ACID SUBSTITUTION; ANIMALS; ARGININE; CELL LINE; CHO CELLS; CRICETINAE; CYSTEINE; DRUG RESISTANCE; EXONS; FEMALE; HLA-DR ANTIGENS; HOMOZYGOTE; HUMANS; MALE; MIDDLE AGED; PEDIGREE; POINT MUTATION; RECEPTORS, THYROTROPIN; THYROTROPIN; THYROXINE; TRANSFECTION; TRIIODOTHYRONINE;

CRICETINAE; CRICETULUS GRISEUS; RAPHIA FRATER;

EID: 0034527615     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.85.11.4238     Document Type: Article

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