Novel frameshift mutation causes early termination of the thyroxine-binding globulin protein and complete thyroxine-binding globulin deficiency in a Chinese family: A case report

BACKGROUND: Thyroxine-binding globulin (TBG; the gene product of SERPINA7) is the main transporter of thyroid hormones in humans. Mutations in the TBG gene may lead to inherited TBG deficiency. There have been 28 reported mutations that associate with complete TBG deficiency (TBG-CD). Here we identi...

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Detalles Bibliográficos
Autores principales: Dang, Ping-Ping, Xiao, Wei-Wei, Shan, Zhong-Yan, Xi, Yue, Wang, Ran-Ran, Yu, Xiao-Hui, Teng, Wei-Ping, Teng, Xiao-Chun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Baishideng Publishing Group Inc 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6887617/
https://www.ncbi.nlm.nih.gov/pubmed/31799319
http://dx.doi.org/10.12998/wjcc.v7.i22.3887

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