A novel splicing mutation and haplotype analysis of the FECH gene in a Chinese family with erythropoietic protoporphyria
Author:
Publisher
Wiley
Subject
Infectious Diseases,Dermatology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1468-3083.2009.03471.x/fullpdf
Reference15 articles.
1. The molecular defect of ferrochelatase in a patient with erythropoietic protoporphyria;Nakahashi;Proc Natl Acad Sci USA,1992
2. Erythropoietic protoporphyria;Todd;Br J Dermatol,1994
3. Molecular defects in ferrochelatase in patients with protoporphyria requiring liver transplantation;Bloomer;J Clin Invest,1998
4. Structure of the human ferrochelatase gene: exon/intron gene organization and location of the gene to chromosome 18;Taketani;Eur J Biochem,1992
5. Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria;Gouya;Am J Hum Genet,2006
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1. A Novel FECH Mutation Causes Erythropoietic Protoporphyria with Severe Liver Dysfunction;Hepatitis Monthly;2018-09-26
2. Identification of FECH gene multiple variations in two Chinese patients with erythropoietic protoporphyria and a review;Journal of Zhejiang University-SCIENCE B;2016-10
3. Protoporphyrin IX: the Good, the Bad, and the Ugly;Journal of Pharmacology and Experimental Therapeutics;2015-11-20
4. Recurrent porphyria attacks in a Chinese patient with a heterozygous PBGD mutation;Gene;2013-07
5. Genetic study in a Singaporean patient with erythropoietic protoporphyria;Photodermatology, Photoimmunology & Photomedicine;2012-09-12
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