Identification and characterization of a novel de novo mutation (L346V) in the thyroid hormone receptor β gene in a family with generalized thyroid hormone resistance

European Journal of Endocrinology

Volumn 137, Issue 4, 1997, Pages 370-376

  Macchia, Enrico ^a   Gurnell, Mark ^b   Agostini, Maura ^a   Giorgilli, Gianfranco ^a   Marcocci, Claudio ^a   Valenti, Teresa M L ^a   Martino, Enio ^a   Chatterjee, Krishna K ^b   Pinchera, Aldo ^a  

^a UNIVERSITY OF PISA   (Italy)

^b UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

HORMONE RECEPTOR; LEUCINE; LIOTHYRONINE; MUTANT PROTEIN; RECEPTOR SUBTYPE; THYROID HORMONE; THYROTROPIN; VALINE;

ADULT; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CONGENITAL HEART DISEASE; CONTROLLED STUDY; FEMALE; HETEROZYGOSITY; HUMAN; HUMAN CELL; MISSENSE MUTATION; PEDIGREE ANALYSIS; PRIORITY JOURNAL; PROTEIN DOMAIN; THYROID HORMONE RESISTANCE;

ADULT; ALLELES; BASE SEQUENCE; CHILD; DRUG RESISTANCE; FEMALE; GENE AMPLIFICATION; HUMANS; MALE; MUTATION; PEDIGREE; RECEPTORS, THYROID HORMONE; THYROID HORMONES; TRIIODOTHYRONINE;

EID: 0030782922     PISSN: 08044643     EISSN: None     Source Type: Journal    
DOI: 10.1530/eje.0.1370370     Document Type: Article

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