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Analysis of Mutations in the XPD Gene in Italian Patients with Trichothiodystrophy: Site of Mutation Correlates with Repair Deficiency, but Gene Dosage Appears to Determine Clinical Severity

By Elena Botta, Tiziana Nardo, Bernard C. Broughton, Stefano Marinoni, Alan R. Lehmann and Miria Stefanini
Publisher: Elsevier BV
Year: 2002
DOI identifier: 10.1086/302063
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Provided by: MUCC (Crossref)
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