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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Bibliographische Detailangaben
Veröffentlicht in:Thyroid
Hauptverfasser: Mimoto, Mizuho S., Karaca, Anara, Scherberg, Neal, Dumitrescu, Alexandra M., Refetoff, Samuel
Format: Artigo
Sprache:Inglês
Veröffentlicht: Mary Ann Liebert, Inc. 2018
Schlagworte:
Brief Report on Novel Mutations Associated with Inherited Thyroid Disorders
Online Zugang: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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