Incomplete erythropoietic protoporphyria caused by a splice site modulator homozygous IVS 3‐48C polymorphism in the ferrochelatase gene
Author:
Affiliation:
1. Department of Dermatology Graduate School of Medicine and Pharmaceutical Sciences University of Toyama Sugitani Toyama 930‐0194 Japan
2. Department of Dermatology Hirosaki University Graduate School of Medicine Hirosaki Aomori 036‐8562 Japan
Publisher
Wiley
Subject
Dermatology
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1111/bjd.14078
Reference9 articles.
1. The ferrochelatase gene structure and molecular defects associated with erythropoietic protoporphyria
2. Contribution of a Common Single-Nucleotide Polymorphism to the Genetic Predisposition for Erythropoietic Protoporphyria
3. The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH
4. Inheritance in erythropoietic protoporphyria: a common wild‐type ferrochelatase allelic variant with low expression accounts for clinical manifestation;Gouya L;Blood,1999
5. Novel mutations and phenotypic effect of the splice site modulator IVS3-48C in nine Swedish families with erythropoietic protoporphyria
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2. Evidence in the UK Biobank for the underdiagnosis of erythropoietic protoporphyria;Genetics in Medicine;2021-01
3. Geographic prevalence variation and phenotype penetrance in porphyria: insights from a Chinese population database;Blood Advances;2020-12-29
4. Targeted resequencing of FECH locus reveals that a novel deep intronic pathogenic variant and eQTLs may cause erythropoietic protoporphyria (EPP) through a methylation-dependent mechanism;Genetics in Medicine;2020-01
5. Erythropoietic Protoporphyria and X-Linked Protoporphyria: pathophysiology, genetics, clinical manifestations, and management;Molecular Genetics and Metabolism;2019-11
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