Publication
| Broughton BC, Thompson AF, Harcourt SA, Vermeulen W, Hoeijmakers JH, Botta E, Stefanini M, King MD, Weber CA, Cole J, et al, Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndrome. Am J Hum Genet56(1):167-74 1995 |
| PubMed ID: 7825573 |
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| Records Return:
(5)
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| Catalog ID | Gender | Age at Sampling | Family | Relationship | Description | Collection_Type_id |
| GM03248 | Male | 5 YR | 714 | proband | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD | GM |
| GM03249 | Male | 5 YR | 714 | proband | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD | GM |
| GM00434 | Male | 28 YR | 502 | proband | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD | GM |
| GM00436 | Female | 22 YR | | proband | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD | GM |
| GM00544 | Male | 10 YR | | proband | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA | GM |
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