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Unusual clinical expression and long survival of a pseudouridylate synthase (PUS1) mutation into adulthood
A homozygote missense mutation of the pseudouridylate synthase gene was found in an adult patient with chronic sideroblastic anemia, diarrhea, microcephaly and failure to thrive. Moderate muscle weakness occurred in adulthood (6-min walk distance at 26 years: 240 m, control range 380–782 m) but a pr...
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| Gepubliceerd in: | Eur J Hum Genet |
|---|---|
| Hoofdauteurs: | , , , , , , , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
Nature Publishing Group
2015
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4795040/ https://ncbi.nlm.nih.gov/pubmed/25227147 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.192 |
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