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A TSHβ Variant with Impaired Immunoreactivity but Intact Biological Activity and Its Clinical Implications

Background: Thyrotropin (TSH) deficiency caused by TSHβ gene mutations is a rare form of congenital central hypothyroidism. Nine different TSHβ gene mutations have been reported, all with clinical manifestations. The aim was to identify the genetic cause of undetectable TSH levels in two siblings wi...

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Bibliografski detalji
Izdano u:Thyroid
Glavni autori: Pappa, Theodora, Johannesen, Jesper, Scherberg, Neal, Torrent, Maricel, Dumitrescu, Alexandra, Refetoff, Samuel
Format: Artigo
Jezik:Inglês
Izdano: Mary Ann Liebert, Inc. 2015
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4533086/
https://ncbi.nlm.nih.gov/pubmed/25950606
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1089/thy.2015.0096
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