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Clinical and Molecular Characterization of a Novel Selenocysteine Insertion Sequence-Binding Protein 2 (SBP2) Gene Mutation (R128X)

Context: Although acquired abnormalities of thyroid hormone metabolism are common, inherited defects in humans involving the synthesis of selenoproteins, including iodothyronine deiodinases, have been described in only one recent publication. Objective: We report the study of a novel selenocysteine...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Di Cosmo, Caterina, McLellan, Neil, Liao, Xiao-Hui, Khanna, Kum Kum, Weiss, Roy E., Papp, Laura, Refetoff, Samuel
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: The Endocrine Society 2009
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC2758735/
https://ncbi.nlm.nih.gov/pubmed/19602558
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2009-0686
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