Xeroderma Pigmentosum-Trichothiodystrophy overlap patient with novel XPD/ERCC2 mutation

Lignende værker

• Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene
  af: Taylor, Elaine M., et al.
  Udgivet: (1997)
• Effect of mutations in XPD(ERCC2) on pregnancy and prenatal development in mothers of patients with trichothiodystrophy or xeroderma pigmentosum
  af: Tamura, Deborah, et al.
  Udgivet: (2012)
• Abnormal XPD-induced nuclear receptor transactivation in DNA repair disorders: trichothiodystrophy and xeroderma pigmentosum
  af: Zhou, Xiaolong, et al.
  Udgivet: (2013)
• Persistence of Repair Proteins at Unrepaired DNA Damage Distinguishes Diseases with ERCC2 (XPD) Mutations: Cancer-Prone Xeroderma Pigmentosum vs. Non-Cancer-Prone Trichothiodystrophy
  af: Boyle, Jennifer, et al.
  Udgivet: (2008)
• Immune defects in families and patients with xeroderma pigmentosum and trichothiodystrophy.
  af: Mariani, E, et al.
  Udgivet: (1992)