Novel TSHR Germline Mutation (Met463Val) Masquerading as Graves' Disease in a Large Welsh Kindred with Hyperthyroidism
Author:
Publisher
Mary Ann Liebert Inc
Subject
Endocrinology,Endocrinology, Diabetes and Metabolism
Link
https://www.liebertpub.com/doi/pdf/10.1089/thy.2000.10.1035
Reference23 articles.
1. Familial hyperthyroidism without evidence of autoimmunity
2. Germline mutations in the thyrotropin receptor gene cause non–autoimmune autosomal dominant hyperthyroidism
3. Functional characteristics of three new germline mutations of the thyrotropin receptor gene causing autosomal dominant toxic thyroid hyperplasia
4. Identification of a New Thyrotropin Receptor Germline Mutation (Leu629Phe) in a Family with Neonatal Onset of Autosomal Dominant Nonautoimmune Hyperthyroidism
5. Constitutively active germline mutation of the thyrotropin receptor gene as a cause of congenital hyperthyroidism
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4. An A627V-activating mutation in the thyroid-stimulating hormone receptor gene in familial nonautoimmune hyperthyroidism;Annals of Pediatric Endocrinology & Metabolism;2020-12-31
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