GENETIC, MOLECULAR AND FUNCTIONAL CHARACTERIZATION OF COCKAYNE SYNDROME, A TRANSCRIPTION DEFECTIVE HEREDITARY DISEASE

Pubblicazioni Scientifiche

• AMERICAN JOURNAL OF HUMAN GENETICS

  Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome

• EXPERIMENTAL CELL RESEARCH

  Multiparametric staining to identify apoptotic human cells

• HISTOCHEMICAL JOURNAL

  Poly(ADP-ribose) synthesis:: a useful parameter for identifying apoptotic cells

• HUMAN MOLECULAR GENETICS

  Identical mutations in the CSB gene associated with either Cockayne syndrome or the DeSanctis-Cacchione variant of xeroderma pigmentosum

• NATURE GENETICS

  Mutations in the XPD helicase gene result in XP and TTD phenotypes, preventing interaction between XPD and the p44 subunit of TFIIH