Publication
Slor H, Batko S, Khan SG, Sobe T, Emmert S, Khadavi A, Frumkin A, Busch DB, Albert RB, Kraemer KH, Clinical, cellular, and molecular features of an Israeli xeroderma pigmentosum family with a frameshift mutation in the XPC gene: sun protection prolongs life. J Invest Dermatol115(6):974-80 2000 |
PubMed ID: 11121128 |
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Records Return:
(6)
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Catalog ID | Gender | Age at Sampling | Family | Relationship | Description | Collection_Type_id |
GM10881 | Female | 45 YR | 482 | proband | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC | GM |
GM16686 | Female | 30 YR | 1976 | mother | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC | GM |
GM16685 | Female | 3 YR | 1976 | sister | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC | GM |
GM16684 | Male | 5 YR | 1976 | proband | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC | GM |
GM16687 | Male | 32 YR | 1976 | father | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC | GM |
GM16180 | Female | | | proband | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG | GM |
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