Article
Clinical and molecular characterization of a novel selenocysteine insertion sequence-binding protein 2 (SBP2) gene mutation (R128X).
The Journal of clinical endocrinology and metabolism - 1 Oct 2009
Di Cosmo Caterina, McLellan Neil, Liao Xiao-Hui, Khanna Kum Kum, Weiss Roy E, Papp Laura, Refetoff Samuel
Abstract excerpt
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 insertion sequence-binding protein 2 (SBP2) gene mutation (R128X) and its clinical and molecular characterization....
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