Novel Ferrochelatase Mutations in Japanese Patients with Erythropoietic Protoporphyria: High Frequency of the Splice Site Modulator IVS3–48C Polymorphism in the Japanese Population-Reference-Cited by-同舟云学术

Novel Ferrochelatase Mutations in Japanese Patients with Erythropoietic Protoporphyria: High Frequency of the Splice Site Modulator IVS3–48C Polymorphism in the Japanese Population

Published:2006-12 Issue:12 Volume:126 Page:2717-2719
ISSN:0022-202X
Container-title:Journal of Investigative Dermatology
language:en
Short-container-title:Journal of Investigative Dermatology

Author:

Nakano Hajime,Nakano Aoi,Toyomaki Yuka,Ohashi Shigeki,Harada Ken,Moritsugu Ryuta,Takeda Hitoshi,Kawada Akira,Mitsuhashi Yoshihiko,Hanada Katsumi

Publisher

Elsevier BV

Subject

Cell Biology,Dermatology,Molecular Biology,Biochemistry

Reference7 articles.

1. Modulation of the phenotype in dominant erythropoietic protoporphyria by a low expression of the normal ferrochelatase allele;Gouya;Am J Hum Genet,1996

2. The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH;Gouya;Nat Genet,2002

3. Genotypic determinants of phenotype in North American patients with erythropoietic protoporphyria;Risheg;Mol Genet Metab,2003

4. New insights into the pathogenesis of erythropoietic protoporphyria and their impact on patient care;Schneider-Yin;Eur J Pediatr,2000

5. Erythropoietic protoporphyria;Todd;Br J Dermatol,1994

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1. A case of elderly-onset erythropoietic protoporphyria diagnosed at autopsy;Kanzo;2023-05-01

2. Role of phlebotomy in the treatment of liver damage related to erythropoietic porphyria;Scientific Reports;2022-04-12

3. Novel mutation of the ferrochelatase gene in a Japanese boy with erythropoietic protoporphyria;The Journal of Dermatology;2022-02-13

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 in a Japanese Population;Acta Dermato Venereologica;2019