A novel 1297-1304delGCCTGCCA mutation in the exon 10 of the thyroid hormone receptor β gene causes resistance to thyroid hormone

Molecular Diagnosis

Volumn 8, Issue 3, 2004, Pages 163-169

  Rivolta, Carina M ^a   Gil, M Susana Mallea ^b   Ballarino, Carolina ^b   Ridruejo, M Carolina ^b   Miguel, Carlos M ^b   Gimenez, Silvia B ^b   Bernacchi, Silvia S ^b   Targovnik, Hétor M ^a  

^a UNIVERSIDAD DE BUENOS AIRES   (Argentina)

^b Ctrl Mil Hosp C Mayor Dr C A   (Argentina)

Author keywords

[No Author keywords available]

Indexed keywords

ACENOCOUMAROL; ADENINE; AMINO ACID; ANTIBODY; ATENOLOL; CABERGOLINE; CYTOSINE; GUANINE; IODINE 131; LIOTHYRONINE; PRIMER DNA; PROPAFENONE; TAQ POLYMERASE; THIAMAZOLE; THYMINE; THYROGLOBULIN; THYROID HORMONE RECEPTOR BETA; THYROID PEROXIDASE; THYROTROPIN; THYROTROPIN RECEPTOR; THYROXINE; TIRATRICOL; WARFARIN;

ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; DNA FINGERPRINTING; DNA SEQUENCE; DRUG RESPONSE; EXON; FRAMESHIFT MUTATION; FREE THYROXINE INDEX; GENE DELETION; GOITER; HEART ATRIUM FIBRILLATION; HUMAN; INTRON; LIOTHYRONINE BLOOD LEVEL; MALE; MONOTHERAPY; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PROTEIN DOMAIN; SEQUENCE ANALYSIS; STOP CODON; SYMPTOM; THYROID HORMONE RESISTANCE; THYROTROPIN BLOOD LEVEL; THYROXINE BLOOD LEVEL; TREATMENT FAILURE;

ADULT; AMINO ACID SEQUENCE; ATRIAL FIBRILLATION; BASE SEQUENCE; DNA-BINDING PROTEINS; EXONS; HUMANS; MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; PROTEIN STRUCTURE, TERTIARY; RECEPTORS, THYROID HORMONE; SEQUENCE DELETION; THYROID HORMONE RECEPTORS BETA; THYROID HORMONE RESISTANCE SYNDROME;

EID: 16344385296     PISSN: 10848592     EISSN: None     Source Type: Journal    
DOI: 10.2165/00066982-200408030-00004     Document Type: Article

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