Human erythropoietic protoporphyria: identification of a mutation at the splice donor site of intron 7 causing exon 7 skipping of the ferrochelatase gene

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Abstract
Yoshitsugu Nakahashi, Hiroaki Miyazaki, Yoichi Kadota, Yuji Naitoh, Kyoichi Inoue, Masayuki Yamamoto, Norio Hayashi, Shigeru Taketani; Human erythropoietic pro