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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Xehetasun bibliografikoak
Argitaratua izan da:Am J Hum Genet
Egile Nagusiak: 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.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Elsevier 2017
Gaiak:
Article
Sarrera elektronikoa: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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