1 results match your criteria: "Tarnier-Cochin Hospital APHP[Affiliation]"

Xeroderma pigmentosum group C in a French Caucasian patient with multiple melanoma and unusual long-term survival.

Br J Dermatol

September 2008

Department of Dermatology, Tarnier-Cochin Hospital APHP, UPRES EA1833, Faculty of Medicine Paris 5, 89 rue d'Assas, 75006 Paris, France.

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.

View Article and Find Full Text PDF