Congenital hypothyroidism with impaired thyroid response to thyrotropin (TSH) and absent circulating thyroglobulin: Evidence for a new inactivating mutation of the TSH receptor gene

Journal of Clinical Endocrinology and Metabolism

Volumn 85, Issue 3, 2000, Pages 1001-1008

  Tonacchera, M ^a   Agretti, P ^a   Pinchera, A ^a   Rosellini, V ^a   Perri, A ^a   Collecchi, P ^a   Vitti, P ^a   Chiovato, L ^a  

^a UNIVERSITY OF PISA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ADENYLATE CYCLASE; CYCLIC AMP; DNA; IODINE 131; LIOTHYRONINE; THYROGLOBULIN; THYROTROPIN; THYROTROPIN RECEPTOR; THYROXINE;

ADULT; ANIMAL CELL; ARTICLE; CASE REPORT; CONGENITAL HYPOTHYROIDISM; DNA SEQUENCE; FAMILY HISTORY; FEMALE; FLOW CYTOMETRY; GENE MUTATION; GENOTYPE; HUMAN; HYPOTHYROIDISM; NONHUMAN; PEDIGREE ANALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RADIOIMMUNOASSAY; THYROID SCINTISCANNING;

ADULT; AMINO ACID SUBSTITUTION; ANIMALS; CATTLE; CERCOPITHECUS AETHIOPS; CONGENITAL HYPOTHYROIDISM; COS CELLS; FEMALE; HUMANS; HYPOTHYROIDISM; IODINE RADIOISOTOPES; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; RECEPTORS, THYROTROPIN; THYROGLOBULIN; THYROTROPIN; THYROXINE; TRANSFECTION; TRIIODOTHYRONINE;

ANIMALIA; BOVINAE; RAPHIA FRATER;

EID: 0034454929     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.85.3.1001     Document Type: Article

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