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 › peer-review

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)

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10.1093/hmg/2.7.1069

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

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

note = "Funding Information: We thank Dr Shigeni Sassa and Dr Hiroyoshi Fujita for valuable suggestions and Ms Kaoru Yasaka for her excellent technical assistance. We also thank Ms Tomoe Nishitani and Ms Junto Yasuda for their secretarial services. This study was supported in part by grants from the Ministry of Education, Science and Culture of Japan.",

year = "1993",

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journal = "Human Molecular Genetics",

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TY - JOUR

T1 - Human erythropoietic protoporphyria

T2 - Identification of a mutation at the splice donor site of intron 7 causing exon 7 skipping of the ferrochelatase gene

AU - Nakahashi, Yoshitsugu

AU - Miyazaki, Hiroaki

AU - Kadota, Yoichi

AU - Naitoh, Yuji

AU - Inoue, Kyoichi

AU - Yamamoto, Masayuki

AU - Hayashi, Norio

AU - Taketani, Shigeru

N1 - Funding Information: We thank Dr Shigeni Sassa and Dr Hiroyoshi Fujita for valuable suggestions and Ms Kaoru Yasaka for her excellent technical assistance. We also thank Ms Tomoe Nishitani and Ms Junto Yasuda for their secretarial services. This study was supported in part by grants from the Ministry of Education, Science and Culture of Japan.

PY - 1993/7

Y1 - 1993/7

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U2 - 10.1093/hmg/2.7.1069

DO - 10.1093/hmg/2.7.1069

M3 - Comment/debate

C2 - 8364548

AN - SCOPUS:0027301851

VL - 2

SP - 1069

EP - 1070

JO - Human Molecular Genetics

JF - Human Molecular Genetics

SN - 0964-6906

IS - 7

ER -

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

ASJC Scopus subject areas

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