Article

Germline Mutations of TSH Receptor Gene as Cause of Nonautoimmune Subclinical Hypothyroidism

2002-06-01

Abstract excerpt

Germline loss-of-function mutations of TSH receptor (TSHR) gene have been described in families with partial or complete TSH resistance. Large TSH elevations were generally found in the patients with homozygous or compound heterozygous mutations. In this study, we sequenced the entire TSHR gene in a series of 10 unrelated patients with slight (6.6–14.9 mU/liter) to moderate (24–46 mU/liter) elevations of serum TSH...

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Literature Corpus work: 3a131f9c-b7b7-5d95-ab24-92e876e8591e
DOI: 10.1210/jc.87.6.2549

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