Clinical and Molecular Analysis in 2 Families With Novel Compound Heterozygous SBP2 (SECISBP2) Mutations

CONTEXT: Selenocysteine insertion sequence binding protein 2 (SECISBP2, SBP2) is an essential factor for selenoprotein synthesis. Individuals with SBP2 defects have characteristic thyroid function test (TFT) abnormalities resulting from deficiencies in the selenoenzymes deiodinases. Eight families w...

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Detalhes bibliográficos
Publicado no:J Clin Endocrinol Metab
Main Authors: Fu, Jiao, Korwutthikulrangsri, Manassawee, Gönç, E Nazli, Sillers, Laura, Liao, Xiao-Hui, Alikaşifoğlu, Ayfer, Kandemir, Nurgün, Menucci, Maria Belen, Burman, Kenneth D, Weiss, Roy E, Dumitrescu, Alexandra M
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2020
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Online Only
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7034949/
https://ncbi.nlm.nih.gov/pubmed/32084277
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/clinem/dgz169
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