DNA-based diagnosis of erythropoietic protoporphyria in two families and the frequency of a low-expression FECH allele in a Chinese population
Author:
Publisher
Elsevier BV
Subject
Biochemistry, medical,Clinical Biochemistry,Biochemistry,General Medicine
Reference16 articles.
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2. Light-induced protoporphyrin release from erythrocytes in erythropoietic protoporphyria;Sandberg;J Clin Invest,1982
3. Biochemical and fluorescence-microscopy screening-tests for erythropoietic protoporphyria;Rimington;Lancet,1965
4. Laboratory investigation of the porphyries;Elder;Ann Clin Biochem,1990
5. Structure of the human ferrochelatase gene. Exon/intron gene organization and location of the gene to chromosome 18;Taketani;Eur J Biochem,1992
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1. Ending diagnostic odyssey using clinical whole-exome sequencing (CWES);Journal of Laboratory Medicine;2021-11-04
2. A Novel FECH Mutation Causes Erythropoietic Protoporphyria with Severe Liver Dysfunction;Hepatitis Monthly;2018-09-26
3. Identification of FECH gene multiple variations in two Chinese patients with erythropoietic protoporphyria and a review;Journal of Zhejiang University-SCIENCE B;2016-10
4. Functional associations of genetic variants involved in the clinical manifestation of erythropoietic protoporphyria in the Argentinean population;Journal of the European Academy of Dermatology and Venereology;2012-05-16
5. A novel splicing mutation and haplotype analysis of the FECH gene in a Chinese family with erythropoietic protoporphyria;Journal of the European Academy of Dermatology and Venereology;2009-11-02
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