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

Yoshitsugu Nakahashi; Hiroaki Miyazaki; Yoichi Kadota; Yuji Naitoh; Kyoichi Inoue; Masayuki Yamamoto; Norio Hayashi; Shigeru Taketani

doi:10.1093/hmg/2.7.1069

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

Yoshitsugu Nakahashi, Hiroaki Miyazaki, Yoichi Kadota, Yuji Naitoh, Kyoichi Inoue, Masayuki Yamamoto, Norio Hayashi, Shigeru Taketani

MED - Medical Sciences

Research output: Contribution to journal › Comment/debate

32 Citations (Scopus)

Original language	English
Pages (from-to)	1069-1070
Number of pages	2
Journal	Human molecular genetics
Volume	2
Issue number	7
DOIs	https://doi.org/10.1093/hmg/2.7.1069
Publication status	Published - 1993 Jul

ASJC Scopus subject areas

Molecular Biology
Genetics
Genetics(clinical)

Access to Document

10.1093/hmg/2.7.1069

Cite this

Nakahashi, Y., Miyazaki, H., Kadota, Y., Naitoh, Y., Inoue, K., Yamamoto, M., Hayashi, N., & Taketani, S. (1993). Human erythropoietic protoporphyria: Identification of a mutation at the splice donor site of intron 7 causing exon 7 skipping of the ferrochelatase gene. Human molecular genetics, 2(7), 1069-1070. https://doi.org/10.1093/hmg/2.7.1069

Human erythropoietic protoporphyria : Identification of a mutation at the splice donor site of intron 7 causing exon 7 skipping of the ferrochelatase gene. / Nakahashi, Yoshitsugu; Miyazaki, Hiroaki; Kadota, Yoichi; Naitoh, Yuji; Inoue, Kyoichi; Yamamoto, Masayuki; Hayashi, Norio; Taketani, Shigeru.

In: Human molecular genetics, Vol. 2, No. 7, 07.1993, p. 1069-1070.

Research output: Contribution to journal › Comment/debate

Nakahashi, Yoshitsugu ; Miyazaki, Hiroaki ; Kadota, Yoichi ; Naitoh, Yuji ; Inoue, Kyoichi ; Yamamoto, Masayuki ; Hayashi, Norio ; Taketani, Shigeru. / Human erythropoietic protoporphyria : Identification of a mutation at the splice donor site of intron 7 causing exon 7 skipping of the ferrochelatase gene. In: Human molecular genetics. 1993 ; Vol. 2, No. 7. pp. 1069-1070.

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