A new mutation in the thyroid hormone receptor (TR) β gene (V458A) in a family with resistance to thyroid hormone (RTH)

Thyroid

Volumn 6, Issue 4, 1996, Pages 311-312

  Weiss, Roy E ^a   Tunca, Hakan ^a   Gerstein, Hertzel C ^b   Refetoff, Samuel ^a  

^a UNIVERSITY OF CHICAGO   (United States)

^b MCMASTER UNIVERSITY   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

THYROID HORMONE; THYROID HORMONE RECEPTOR;

ADULT; AMINO ACID ANALYSIS; ARTICLE; BINDING AFFINITY; CASE REPORT; FEMALE; GENE AMPLIFICATION; GENE MUTATION; HUMAN; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; THYROID DISEASE; THYROID HORMONE BLOOD LEVEL;

EID: 0029762751     PISSN: 10507256     EISSN: None     Source Type: Journal    
DOI: 10.1089/thy.1996.6.311     Document Type: Article

References (4)

1. Refetoff S, Weiss RE, Usala SJ 1993 The syndromes of resistance to thyroid hormone. Endocr Rev 14:348-399.
2. Announcement 1994 A registry for resistance to thyroid hormone. Mol Endocrinol 8:1558.
3. Usala SJ, Menke JB, Watson TL, et al. 1991 A homozygous deletion in the c-erbAβ thyroid hormone receptor gene in a patient with generalized thyroid hormone resistance: isolation and characterization of the mutant receptor. Mol Endocrinol 5:327-335.
4. Weiss RE, Weinberg M, Refetoff S 1993 Identical mutations in unrelated families with generalized resistance to thyroid hormone occur in cytosine-guanine-rich areas of the thyroid hormone receptor beta gene: Analysis of 15 families. J Clin Invest 91:2408-2415.