Article
Late-onset erythropoietic porphyria caused by a chromosome 18q deletion in erythroid cells.
The Journal of investigative dermatology - 1 Dec 2001
Aplin C, Whatley S D, Thompson P, Hoy T, Fisher P, Singer C, Lovell C R, Elder G H
Abstract excerpt
The erythropoietic porphyrias, erythropoietic protoporphyria and congenital erythropoietic porphyria, result from germline mutations in the ferrochelatase gene and uroporphyrinogen III synthase gene, respectively. Both conditions normally present in childhood but rare cases with onset past the age of 40 y have been reported. Here we show that late-onset erythropoietic protoporphyria can be caused by deletion of...
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