Mutation of a Gene Essential for Ribosome Biogenesis, EMG1, Causes Bowen-Conradi Syndrome

Bowen-Conradi syndrome (BCS) is an autosomal-recessive disorder characterized by severely impaired prenatal and postnatal growth, profound psychomotor retardation, and death in early childhood. Nearly all reported BCS cases have been among Hutterites, with an estimated birth prevalence of 1/355. We...

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Bibliografski detalji
Glavni autori: Armistead, Joy, Khatkar, Sunita, Meyer, Britta, Mark, Brian L., Patel, Nehal, Coghlan, Gail, Lamont, Ryan E., Liu, Shuangbo, Wiechert, Jill, Cattini, Peter A., Koetter, Peter, Wrogemann, Klaus, Greenberg, Cheryl R., Entian, Karl-Dieter, Zelinski, Teresa, Triggs-Raine, Barbara
Format: Artigo
Jezik:Inglês
Izdano: Elsevier 2009
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Article
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2694972/
https://ncbi.nlm.nih.gov/pubmed/19463982
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2009.04.017
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