Mutation in the Thyroid Hormone Receptor (TR) β Gene (M313T) Not Previously Reported in Two Unrelated Families with Resistance to Thyroid Hormone (RTH)
Author:
Publisher
Mary Ann Liebert Inc
Subject
Endocrinology,Endocrinology, Diabetes and Metabolism
Link
https://www.liebertpub.com/doi/pdf/10.1089/thy.1996.6.571
Reference6 articles.
1. The syndromes of resistance to thyroid hormone
2. 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
3. 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.
4. Genetic analysis of 29 kindreds with generalized and pituitary resistance to thyroid hormone. Identification of thirteen novel mutations in the thyroid hormone receptor beta gene.
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1. Assessing the clinical and molecular diagnosis of inherited forms of impaired sensitivity to thyroid hormone from a single tertiary center;Endocrine;2018-07-19
2. Pathogenic mechanism of mutations in the thyroid hormone receptor beta gene;J ENDOCRINOL INVEST;2012
3. Variable clinical presentation and outcome in pediatric patients with resistance to thyroid hormone (RTH);Endocrine;2011-08-26
4. A new mutation in the thyroid hormone receptor gene of a Chinese family with resistance to thyroid hormone;CHINESE MED J-PEKING;2011
5. Resistance to Thyroid Hormone in a Patient with Coexisting Graves' Disease;Thyroid;2010-02
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