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.
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A. Lehmann | M. Stefanini | T. Nardò | E. Botta | B. Broughton | S. Marinoni | A R Lehmann | E Botta | T Nardo | B C Broughton | S Marinoni | M Stefanini
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