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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...
Gorde:
| Argitaratua izan da: | Eur J Hum Genet |
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| Egile Nagusiak: | , , , , , , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
Nature Publishing Group
2015
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| Gaiak: | |
| Sarrera elektronikoa: | 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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