Published 2014
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Marinesco-Sjogren Syndrome and SIL1 Mutations
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Abstract
Investigators from Aachen University, Germany, and multiple centers in Europe, UK, USA, Turkey and Argentina, report the results of SIL1 mutation analysis in 62 patients presenting with early-onset ataxia, cataracts and myopathy, the characteristic Marinesco-Sjogren syndrome triad.Files
PNB-2014-28-2-9.pdf
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- PNB-2014-28-2-9
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2014When the item was originally created.