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First report of inherited thyroxine-binding globulin deficiency in Iran caused by a known de novo mutation in SERPINA7

BACKGROUND: Thyroxine-binding globulin (TBG) is the main transporter of thyroid hormones in human serum, encoded by the gene TBG (SERPINA7), located in long arm of X-chromosome (Xq21-q22). Deficiency of SERPINA7 (serum protease inhibitor, clade A [alpha-1 antiproteinase, antitrypsin], member 7) lead...

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Detalles Bibliográficos
Autores principales: Soheilipour, Fahimeh, Fazilaty, Hassan, Jesmi, Fatemeh, Gahl, William A., Behnam, Babak
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4909823/
https://www.ncbi.nlm.nih.gov/pubmed/27331012
http://dx.doi.org/10.1016/j.ymgmr.2016.06.001