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

Alterations in the CSB gene in three Italian patients with the severe form of Cockayne syndrome (CS) but without clinical photosensitivity

By Mallery D.  

Human Molecular Genetics, Vol. 8, Iss. 5, 1999-05 ,pp. : 935-941

Oxford University Press

Access to resources Recommend Favorite

Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene

By Queille S.  

Human Molecular Genetics, Vol. 10, Iss. 22, 2001-10 ,pp. : 2539-2547

Oxford University Press

Access to resources Recommend Favorite

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

Identification of Two Novel ERCC6 Mutations in Old Order Amish with Cockayne Syndrome

By  

Molecular Syndromology, Vol. 3, Iss. 6, 2012-12 ,pp. : 288-290

Karger

Access to resources Recommend Favorite