Detection of a new de novo mutation at codon 251 of exon 8 of thyroid hormone receptor β gene in an Italian kindred with resistance to thyroid hormone

Journal of Endocrinological Investigation

Volumn 21, Issue 4, 1998, Pages 226-233

  Macchia, E ^a   Agostini, M ^a   Sarkissian, G ^b   Giorgilli, G ^a   Canale, D ^a   Scartabelli, G ^a   Margotat, A ^b   Torresani, J ^b   Pinchera, A ^a  

^a UNIVERSITY OF PISA   (Italy)

^b INSERM   (France)

Author keywords

De novo mutation; Receptor 1; Resistance; Thyroid hormone

Indexed keywords

GLUTAMIC ACID; GLYCINE; MUTANT PROTEIN; THYROID HORMONE; THYROID HORMONE RECEPTOR;

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BLOOD SAMPLING; CLINICAL ARTICLE; CODON; CONTROLLED STUDY; EXON; FEMALE; GENE AMPLIFICATION; GENE CLUSTER; GENE MUTATION; GENETIC ANALYSIS; GENETIC TRANSCRIPTION; HUMAN; HUMAN CELL; LIGAND BINDING; MALE; NUCLEOTIDE SEQUENCE; ONCOGENE C ERB; PEDIGREE ANALYSIS; POLYMERASE CHAIN REACTION; RECEPTOR GENE; RNA TRANSLATION; SCATCHARD PLOT; SEQUENCE ANALYSIS; THYROID FUNCTION TEST; THYROID HORMONE RESISTANCE; TRANSACTIVATION;

EID: 0031861443     PISSN: 03914097     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF03347307     Document Type: Article

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