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The short mRNA isoform of the immunoglobulin superfamily, member 1 gene encodes an intracellular glycoprotein
Mutations in the immunoglobulin superfamily, member 1 gene (IGSF1/Igsf1) cause an X-linked form of central hypothyroidism. The canonical form of IGSF1 is a transmembrane glycoprotein with 12 immunoglobulin (Ig) loops. The protein is co-translationally cleaved into two sub-domains. The carboxyl-termi...
Autores principales: | Wang, Ying, Brûlé, Emilie, Silander, Tanya, Bak, Beata, Joustra, Sjoerd D., Bernard, Daniel J. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5501590/ https://www.ncbi.nlm.nih.gov/pubmed/28686733 http://dx.doi.org/10.1371/journal.pone.0180731 |
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