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A FUNCTIONAL HAPLOTYPE IN EIF2AK3, AN ER STRESS SENSOR, IS ASSOCIATED WITH LOWER BONE MINERAL DENSITY
EIF2AK3 is a type I transmembrane protein that functions as an endoplasmic reticulum (ER) stress sensor to regulate global protein synthesis. Rare mutations in EIF2AK3 cause Wolcott-Rallison syndrome (OMIM 226980), an autosomal recessive disorder characterized by diabetes, epiphyseal dysplasia, oste...
Αποθηκεύτηκε σε:
| Κύριοι συγγραφείς: | , , , , , , , |
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| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
2012
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3319695/ https://ncbi.nlm.nih.gov/pubmed/22028037 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jbmr.549 |
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