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A novel XPD mutation in a compound heterozygote; the mutation in the second allele is present in three homozygous patients with mild sun sensitivity

  • Tzipora C. Falik-Zaccai*
  • , Reut Erel-Segal
  • , Liran Horev
  • , Ora Bitterman-Deutsch
  • , Sivan Koka
  • , Sara Chaim
  • , Zohar Keren
  • , Limor Kalfon
  • , Bella Gross
  • , Zvi Segal
  • , Shlomi Orgal
  • , Yishay Shoval
  • , Hanoch Slor
  • , Graciela Spivak
  • , Philip C. Hanawalt
  • *Corresponding author for this work
  • Western Galilee Medical Center of Nahariya
  • Bar-Ilan University
  • Technion-Israel Institute of Technology
  • Hebrew University of Jerusalem
  • Tel Aviv University
  • Stanford University

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12 Scopus citations

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Biochemistry, Genetics and Molecular Biology

Neuroscience