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Ovarioleukodystrophy: report of a case with the c.338G>A (p.Arg113His) mutation on exon 3 and the c.896G>A (p.Arg299His) mutation on exon 7 of the EIF2B5 gene
The authors present a 28-year-old lady with progressive neurological deterioration beginning in childhood. She had clinical, radiological and genetic features of ovarioleukodystrophy. This is part of the spectrum of vanishing white matter disease and the first such case reported in the UK. The autho...
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| Hlavní autoři: | , , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
BMJ Publishing Group
2011
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3070385/ https://ncbi.nlm.nih.gov/pubmed/22699478 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr.11.2010.3552 |
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