Analysis of the mechanism underlying a mild phenotype of hereditary coproporphyria due to a homozygous missense mutation in the transcription initiation codon of the coproporphyrinogen III oxidase gene.
作者信息
Fukui Tomohisa, Akasaka Eijiro, Rokunohe Daiki, Matsuzaki Yasushi, Sawamura Daisuke, Kabashima Kenji, Nakano Hajime
机构信息
Department of Dermatology, Hirosaki University Graduate School of Medicine, Hirosaki, Japan.
Department of Dermatology, Kyoto University Graduate School of Medicine, Kyoto, Japan.
出版信息
J Dermatol Sci. 2020 Nov;100(2):156-159. doi: 10.1016/j.jdermsci.2020.06.006. Epub 2020 Jun 15.
Abstract
摘要
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Analysis of the mechanism underlying a mild phenotype of hereditary coproporphyria due to a homozygous missense mutation in the transcription initiation codon of the coproporphyrinogen III oxidase gene.由于粪卟啉原III氧化酶基因转录起始密码子的纯合错义突变导致的遗传性粪卟啉病轻度表型的潜在机制分析。
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