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Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy

  • Elena Botta
  • , Arjan F. Theil
  • , Anja Raams
  • , Giuseppina Caligiuri
  • , Sarah Giachetti
  • , Silvia Bione
  • , Maria Accadia
  • , Anita Lombardi
  • , Desiree E.C. Smith
  • , Marisa I. Mendes
  • , Sigrid M.A. Swagemakers
  • , Peter J. Van Der Spek
  • , Gajja S. Salomons
  • , Jan H.J. Hoeijmakers
  • , Dhanya Yesodharan
  • , Sheela Nampoothiri
  • , Tomoo Ogi
  • , Alan R. Lehmann
  • , Donata Orioli
  • , Wim Vermeulen

Research output: Contribution to journalArticlepeer-review

45 Citations (Scopus)

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Biochemistry, Genetics and Molecular Biology