A de novo mutation in an already mutant nucleotide of the thyroid hormone receptor β gene perpetuates resistance to thyroid hormone

Journal of Clinical Endocrinology and Metabolism

Volumn 90, Issue 3, 2005, Pages 1760-1767

  Lado Abeal, Joaquin ^a,d   Dumitrescu, Alexandra M ^a   Liao, Xiao Hui ^a   Cohen, Ronald N ^a   Pohlenz, Joachim ^a,e   Weiss, Roy E ^a   Lebrethon, Marie Christine ^c   Verloes, Alain ^b   Refetoff, Samuel ^a  

^a UNIVERSITY OF CHICAGO   (United States)

^b HÔPITAL ROBERT DEBRÉ   (France)

^c Centre Hospitalier Regional de La Citadelle   (Belgium)

^d UNIVERSITY OF SANTIAGO DE COMPOSTELA   (Spain)

^e JOHANNES GUTENBERG UNIVERSITY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

GLUTAMIC ACID; GLYCINE; GUANINE NUCLEOTIDE; LIOTHYRONINE; NUCLEAR RECEPTOR COREPRESSOR; PYRIMIDINE NUCLEOTIDE; RETINOID X RECEPTOR ALPHA; STEROID RECEPTOR COACTIVATOR 1; THYROID HORMONE; THYROID HORMONE RECEPTOR BETA; THYROXINE; VALINE; THYROID HORMONE RECEPTOR;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; CLINICAL FEATURE; CODON; FEMALE; FREE LIOTHYRONINE INDEX; GENETIC TRAIT; GENETIC TRANSFECTION; HAPLOTYPE; HEARING IMPAIRMENT; HORMONE RECEPTOR INTERACTION; HUMAN; LIOTHYRONINE BLOOD LEVEL; MENTAL DEFICIENCY; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SITE DIRECTED MUTAGENESIS; THYROID HORMONE RESISTANCE; THYROXINE BLOOD LEVEL; ANIMAL; CELL STRAIN COS1; CERCOPITHECUS; CHEMISTRY; CONFORMATION; DIMERIZATION; FAMILY HEALTH; GENETICS; LIVER CELL CARCINOMA; LIVER TUMOR; MALE; PEDIGREE; POINT MUTATION; TUMOR CELL LINE;

ADULT; ANIMALS; CARCINOMA, HEPATOCELLULAR; CELL LINE, TUMOR; CERCOPITHECUS AETHIOPS; COS CELLS; DIMERIZATION; FAMILY HEALTH; FEMALE; HUMANS; LIVER NEOPLASMS; MALE; NUCLEIC ACID CONFORMATION; PEDIGREE; POINT MUTATION; RECEPTORS, THYROID HORMONE; THYROID HORMONE RECEPTORS BETA; THYROID HORMONE RESISTANCE SYNDROME;

EID: 15944367754     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.2004-1488     Document Type: Article

References (30)

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