Novel mutation of the ferrochelatase gene in a Japanese family with erythropoietic protoporphyria

J Dermatol. 2020 Apr;47(4):e114-e116. doi: 10.1111/1346-8138.15258. Epub 2020 Feb 13.

Authors

Akimasa Saito¹, Naoko Okiyama¹, Sae Inoue¹, Noriko Kubota¹, Yoshiyuki Nakamura¹, Yosuke Ishitsuka¹, Rei Watanabe¹, Hajime Nakano², Yasuhiro Fujisawa¹

Affiliations

¹ Department of Dermatology, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan.
² Department of Dermatology, Hirosaki University Graduate School of Medicine, Hirosaki, Japan.

PMID: 32056258
DOI: 10.1111/1346-8138.15258

No abstract available

Publication types

Case Reports
Letter

MeSH terms

DNA Mutational Analysis
Exons / genetics
Female
Ferrochelatase / genetics*
Frameshift Mutation
Heterozygote
Humans
Japan
Loss of Function Mutation
Male
Middle Aged
Pedigree
Protoporphyria, Erythropoietic / diagnosis
Protoporphyria, Erythropoietic / genetics*

Substances

FECH protein, human
Ferrochelatase