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A Novel Mutation in the TBG Gene Producing Partial Thyroxine-Binding Globulin Deficiency (Glencoe) Identified in 2 Families

BACKGROUND: Thyroxine-binding globulin (TBG) is the major thyroid hormone transport protein in serum. Located on the long arm of the X chromosome, TBG (SERPINA7) gene mutations most commonly produce inherited partial TBG deficiency (TBG-PD). OBJECTIVE: We report a novel TBG variant associated with T...

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Pubblicato in:Eur Thyroid J
Autori principali: Pappa, Theodora, Moeller, Lars C., Edidin, Deborah V., Pannain, Silvana, Refetoff, Samuel
Natura: Artigo
Lingua:Inglês
Pubblicazione: S. Karger AG 2017
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5527229/
https://ncbi.nlm.nih.gov/pubmed/28785540
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000455097
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