A Ribosomopathy Reveals Decoding Defective Ribosomes Driving Human Dysmorphism

Ribosomal protein (RP) gene mutations, mostly associated with inherited or acquired bone marrow failure, are believed to drive disease by slowing the rate of protein synthesis. Here de novo missense mutations in the RPS23 gene, which codes for uS12, are reported in two unrelated individuals with mic...

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書誌詳細
出版年:Am J Hum Genet
主要な著者: Paolini, Nahuel A., Attwood, Martin, Sondalle, Samuel B., Vieira, Carolina Marques dos Santos, van Adrichem, Anita M., di Summa, Franca M., O’Donohue, Marie-Françoise, Gleizes, Pierre-Emmanuel, Rachuri, Swaksha, Briggs, Joseph W., Fischer, Roman, Ratcliffe, Peter J., Wlodarski, Marcin W., Houtkooper, Riekelt H., von Lindern, Marieke, Kuijpers, Taco W., Dinman, Jonathan D., Baserga, Susan J., Cockman, Matthew E., MacInnes, Alyson W.
フォーマット: Artigo
言語:Inglês
出版事項: Elsevier 2017
主題:
Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC5339345/
https://ncbi.nlm.nih.gov/pubmed/28257692
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2017.01.034
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