Coproporphyrinogene oxidase: gene organization and description of a mutation leading to exon 6 skipping-Reference-Cited by-同舟云学术

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Coproporphyrinogene oxidase: gene organization and description of a mutation leading to exon 6 skipping

Published:1994 Issue:8 Volume:3 Page:1325-1330
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:Hum Mol Genet

Author:

Delfau-Larue Marie-Hélène,Martasek Pavel,Grandchamp Bernard

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/3/8/1325/1473601/3-8-1325.pdf

Cited by 55 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Inherited Porphyrias;Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics;2021

2. 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;Journal of Dermatological Science;2020-11

3. Molecular analysis of 19 Spanish patients with mixed porphyrias;European Journal of Medical Genetics;2019-12

4. Neonatal-Onset Hereditary Coproporphyria: A New Variant of Hereditary Coproporphyria;JIMD Reports;2017

5. The enzyme engineering of mutant homodimer and heterodimer of coproporphyinogen oxidase contributes to new insight into hereditary coproporphyria and harderoporphyria;Journal of Biochemistry;2013-09-26

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