Article
Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome.
Human mutation - 1 Nov 2006
Oh Kyu-Seon, Khan Sikandar G, Jaspers N G J, Raams Anja, Ueda Takahiro, Lehmann Alan, Friedmann Peter S, Emmert Steffen, Gratchev Alexi, Lachlan Katherine, Lucassan Anneke, Baker Carl C, Kraemer Kenneth H
Abstract excerpt
Defects in the xeroderma pigmentosum type B (XPB) gene (ERCC3), a DNA helicase involved in nucleotide excision repair (NER) and an essential subunit of the basal transcription factor, TFIIH, have been described in only three families. We report three new XPB families: one has two sisters with relatively mild xeroderma pigmentosum (XP) symptoms not previously associated with XPB mutations and two have severe...
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