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

Cancer Risk Associated with Germline DNA Mismatch Repair Gene Mutations

By Dunlop Malcolm G.  

Human Molecular Genetics, Vol. 6, Iss. 1, 1997-01 ,pp. : 105-110

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

Identification of Mutations in Two Major mRNA Isoforms of the Chediak-Higashi Syndrome Gene in Human and Mouse

By Barbosa Maria D. F. S.  

Human Molecular Genetics, Vol. 6, Iss. 7, 1997-07 ,pp. : 1091-1098

Oxford University Press

Access to resources Recommend Favorite

Risk for nicotine dependence and lung cancer is conferred by mRNA expression levels and amino acid change in CHRNA5

By Wang Jen C.   Cruchaga Carlos   Saccone Nancy L.   Bertelsen Sarah   Liu Pengyuan   Budde John P.   Duan Weimin   Fox Louis   Grucza Richard A.   Kern Jason   Mayo Kevin   Reyes Oliver   Rice John   Saccone Scott F.   Spiegel Noah   Steinbach Joseph H.   Stitzel Jerry A.   Anderson Marshall W.   You Ming   Stevens Victoria L.   Bierut Laura J.   Goate Alison M.  

Human Molecular Genetics, Vol. 18, Iss. 16, 2009-08 ,pp. : 3125-3135

Oxford University Press

Access to resources Recommend Favorite