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Homozygous Mutation in Human Serum Albumin and Its Implication on Thyroid Tests
An individual with familial dysalbuminemic hyperthyroxinemia (FDH) due to a homozygous mutation (c.653G>A, p.R218H) in the human serum albumin (HSA) gene is reported. The patient was identified during evaluation of abnormal thyroid tests in a large family with multiple levels of consanguinity. He...
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| Pubblicato in: | Thyroid |
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| Autori principali: | , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Mary Ann Liebert, Inc.
2018
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5994679/ https://ncbi.nlm.nih.gov/pubmed/29676214 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1089/thy.2017.0564 |
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