Article
Xeroderma pigmentosum group C in a French Caucasian patient with multiple melanoma and unusual long-term survival.
The British journal of dermatology - 1 Sept 2008
Jacobelli S, Soufir N, Lacapere J J, Regnier S, Bourillon A, Grandchamp B, Hétet G, Pham D, Palangie A, Avril M F, Dupin N, Sarasin A, Gorin I
Abstract excerpt
We report the case of an 83-year-old French woman with multiple melanomas showing a severe DNA repair deficiency, corrected after transfection by XPC cDNA. Two biallelic mutations in the XPC gene are reported: an inactivating frameshift mutation in exon 15 (c.2544delG, p.W848X) and a missense mutation in exon 11 (c.2108 C>T, P703L). We demonstrate that these new mutations are involved in the DNA repair deficiency...
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