Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans.
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Schoenmakers E, et al. Among authors: gurnell m.
J Clin Invest. 2010 Dec;120(12):4220-35. doi: 10.1172/JCI43653. Epub 2010 Nov 15.
J Clin Invest. 2010.
PMID: 21084748
Free PMC article.