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...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:Am J Hum Genet
Autors principals: 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.
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2017
Matèries:
Article
Accés en línia: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
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars