Article
Hypermethylation of the wild-type ferrochelatase allele is closely associated with severe liver complication in a family with erythropoietic protoporphyria.
Biochemical and biophysical research communications - 3 Sept 2004
Onaga Yukiko, Ido Akio, Uto Hirofumi, Hasuike Satoru, Kusumoto Kazunori, Moriuchi Akihiro, Numata Masatsugu, Nagata Kenji, Hori Takeshi, Hayashi Katsuhiro, Tsubouchi Hirohito
Abstract excerpt
Erythropoietic protoporphyria (EPP) is an inherited disorder of heme biosynthesis caused by cellular decreases in ferrochelatase (FECH) activity. Clinical expression of this disorder usually requires coinheritance of a mutant FECH allele and a normal FECH allele expressed at a low level. In this study, we investigated the methylation status of a normal, but poorly expressed, FECH gene in a single Japanese family...
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