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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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發表在:Thyroid
Main Authors: Pappa, Theodora, Johannesen, Jesper, Scherberg, Neal, Torrent, Maricel, Dumitrescu, Alexandra, Refetoff, Samuel
格式: Artigo
語言:Inglês
出版: Mary Ann Liebert, Inc. 2015
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在線閱讀: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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