Digital PCR (dPCR) analysis reveals that the homozygous c.315–48T>C variant in the FECH gene might cause erythropoietic protoporphyria (EPP)
Author:
Funder
Ministry of Health
Publisher
Elsevier BV
Subject
Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism
Reference19 articles.
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2. Clinical, biochemical, and genetic characterization of north American patients with Erythropoietic Protoporphyria and X-linked Protoporphyria;Balwani;JAMA Dermatol.,2017
3. Iron availability modulates aberrant splicing of ferrochelatase through the iron- and 2-oxoglutarate dependent dioxygenase Jmjd6 and U2AF(65.);Barman-Aksozen;Blood Cells Mol. Dis.,2013
4. Porphyria;Bissell;N. Engl. J. Med.,2017
5. X-chromosomal inactivation directly influences the phenotypic manifestation of X-linked protoporphyria;Brancaleoni;Clin. Genet.,2016
Cited by 4 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. Case report: Xeroderma pigmentosum Group A with erythropoietic protoporphyria in a young Chinese patient;Frontiers in Endocrinology;2024-07-26
2. Heme Biosynthetic Gene Expression Analysis With dPCR in Erythropoietic Protoporphyria Patients;Frontiers in Physiology;2022-07-18
3. 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
4. Erythropoietic Protoporphyria in a Japanese Population;Acta Dermato Venereologica;2019
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