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Structural Abnormalities in the Hair of a Patient with a Novel Ribosomopathy
We report the biophysical characterization of hair from a patient with a de novo ribosomopathy. The patient was diagnosed with a mutation on gene RPS23, which codes for a protein which comprises part of the 40S subunit of the ribosome. The patient presents with a number of phenotypes, including hypo...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Public Library of Science
2016
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4794122/ https://www.ncbi.nlm.nih.gov/pubmed/26982655 http://dx.doi.org/10.1371/journal.pone.0149619 |