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 |
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| Records Return:
(8)
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| Catalog ID | Gender | Age at Sampling | Family | Relationship | Description | Collection_Type_id |
| GM00435 | Female | 23 YR | 502 | sister | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD | GM |
| GM10430 | Female | 20 YR | 1212 | proband | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD | GM |
| GM08207 | Female | 19 YR | 1212 | proband | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD | GM |
| GM15754 | Female | 4 YR | | proband | TRICHOTHIODYSTROPHY; TTD ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH RETARDATION, INCLUDED | GM |
| GM15752 | Female | 4 MO | | proband | TRICHOTHIODYSTROPHY; TTD ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH RETARDATION, INCLUDED | GM |
| GM00436 | Female | 22 YR | | proband | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD | GM |
| GM03615 | Female | | | proband | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD | GM |
| GM15753 | Male | 2 YR | | proband | TRICHOTHIODYSTROPHY; TTD ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH RETARDATION, INCLUDED | GM |
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