Article
A new ferrochelatase mutation combined with low expression alleles in a Japanese patient with erythropoietic protoporphyria.
Clinical science (London, England : 1979) - 1 May 2002
Yasui Yumiko, Muranaka Shikibu, Tahara Tsuyoshi, Shimizu Ryo, Watanabe Sonoko, Horie Yutaka, Nanba Eiji, Uezato Hiroshi, Takamiyagi Atsushi, Taketani Shigeru, Akagi Reiko
Abstract excerpt
We investigated the molecular defect of the ferrochelatase gene in a Japanese patient with erythropoietic protoporphyria (EPP), and identified a novel 16 base pair (574-589) deletion within exon 5. This deletion resulted in a frame-shift mutation and created a premature stop codon at amino acid position 198. The same molecular defect was also identified in his mother and a brother who had symptomatic EPP, but not...
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