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...

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Bibliographic Details
Main Authors: Liu, Jie, Hoppman, Nicole, O'Connell, Jeffrey R, Wang, Hong, Streeten, Elizabeth A, McLenithan, John C, Mitchell, Braxton D, Shuldiner, Alan R
Format: Artigo
Language:Inglês
Published: 2012
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Article
Online Access: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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