Publication

Taylor EM, Broughton BC, Botta E, Stefanini M, Sarasin A, Jaspers NG, Fawcett H, Harcourt SA, Arlett CF, Lehmann AR, Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene. Proc Natl Acad Sci U S A94(16):8658-63 1997
PubMed ID: 9238033

Records Return:  (8) Show
 
Catalog IDGenderAge at SamplingFamilyRelationshipDescription
GM00435Female23 YR502sisterXERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD
GM10430Female20 YR1212probandXERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD
GM08207Female19 YR1212probandXERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD
GM15754Female4 YR probandTRICHOTHIODYSTROPHY; TTD ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH RETARDATION, INCLUDED
GM15752Female4 MO probandTRICHOTHIODYSTROPHY; TTD ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH RETARDATION, INCLUDED
GM00436Female22 YR probandXERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD
GM03615Female  probandXERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD
GM15753Male2 YR probandTRICHOTHIODYSTROPHY; TTD ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH RETARDATION, INCLUDED