Publication

Cleaver JE, Thompson LH, Richardson AS, States JC, A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. Hum Mutat14(1):9-22 1999
PubMed ID: 10447254

Records Return:  (30) Show
 
12
Catalog IDGenderAge at SamplingFamilyRelationshipDescription
GM02249Male16 YR75probandXERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC
GM00671Male15 YR75probandXERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC
GM03248Male5 YR714probandXERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD
GM03249Male5 YR714probandXERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD
GM01629Female10 YR628probandCOCKAYNE SYNDROME, TYPE B; CSB
GM02634Female16 YR627probandXERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC
GM02096Female15 YR627probandXERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC
GM02415Female34 YR626probandXERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
GM02450Female30 YR626second cousinXERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
GM02248Male25 YR507probandXERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC
GM00030Male24 YR507probandXERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC
GM10881Female45 YR482probandXERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC
GM02246Female30 YR482probandXERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC
GM01712Male21 YR251probandCOCKAYNE SYNDROME, TYPE B; CSB
GM01098Male20 YR251probandCOCKAYNE SYNDROME, TYPE B; CSB
GM04313Female64 YR2047probandXERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF
GM08437Female64 YR2047probandXERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF
GM03542Male29 YR2047great nephewXERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF
GM13371Female5 YR1849probandXERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG
GM14931Female5 YR1849probandXERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG