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

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18 Citations (Scopus)

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Medicine & Life Sciences