Two essential splice lariat branchpoint sequences in one intron in a xeroderma pigmentosum DNA repair gene: mutations result in reduced XPC mRNA levels that correlate with cancer risk

By Khan Sikandar G.  

Human Molecular Genetics, Vol. 13, Iss. 3, 2004-02 ,pp. : 343-352

Oxford University Press

Access to resources Recommend Favorite

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

By Colella Stefano   Nardo Tiziana   Botta Elena   Lehmann Alan R.   Stefanini Miria  

Human Molecular Genetics, Vol. 9, Iss. 8, 2000-05 ,pp. : 1171-1175

Oxford University Press

Access to resources Recommend Favorite

The relative expression of mutated XPB genes results in xeroderma pigmentosum/Cockayne’s syndrome or trichothiodystrophy cellular phenotypes

By Riou Lydia   Zeng Lin   Chevallier-Lagente Odile   Stary Anne   Nikaido Osamu  

Human Molecular Genetics, Vol. 8, Iss. 6, 1999-06 ,pp. : 1125-1133

Oxford University Press

Access to resources Recommend Favorite

XPD mutations in trichothiodystrophy hamper collagen VI expression and reveal a role of TFIIH in transcription derepression

By Orioli Donata   Compe Emmanuel   Nardo Tiziana   Mura Manuela   Giraudon Christophe   Botta Elena   Arrigoni Laura   Peverali Fiorenzo A.   Egly Jean Marc   Stefanini Miria  

Human Molecular Genetics, Vol. 22, Iss. 6, 2013-03 ,pp. : 1061-1073

Oxford University Press

Access to resources Recommend Favorite

Mutations in the general transcription factor TFIIH result in β -thalassaemia in individuals with trichothiodystrophy

By Brueton L.  

Human Molecular Genetics, Vol. 10, Iss. 24, 2001-11 ,pp. : 2797-2802

Oxford University Press

Access to resources Recommend Favorite