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Previous Volume 360:731-734 February 12, 2009 Number 7 Next

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To the Editor: We report on a family with recessive resistance to the action of thyrotropin-releasing hormone (TRH) due to a nonsense homozygous mutation in the TRH receptor (TRHR) gene (p.R17X). We examined the in vivo effects of complete refractoriness to the TRH signal in this family (Figure 1).

View larger version (14K):   Figure 1. Pedigree of a Family with a TRHR Nonsense Mutation. The coding region of the thyrotropin-releasing hormone (TRH) receptor gene (TRHR) was amplified as previously reported.1 The purified polymerase-chain-reaction products were directly sequenced with the use of an automated sequencer (ABI 3100 Avant Genetic Analyzer, Applied . . . [Full Text of this Article]

 

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