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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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| Wydane w: | World J Clin Cases |
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| Główni autorzy: | , , , , , , , |
| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
Baishideng Publishing Group Inc
2019
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| Hasła przedmiotowe: | |
| Dostęp online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6887617/ https://ncbi.nlm.nih.gov/pubmed/31799319 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.12998/wjcc.v7.i22.3887 |
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