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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...
שמור ב:
| הוצא לאור ב: | Am J Hum Genet |
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| Main Authors: | , , , , , , , , , , , , , , , , , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
Elsevier
2017
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| נושאים: | |
| גישה מקוונת: | 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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