Last Posted: Aug 07, 2019
- Ferrochelatase gene mutation in Singapore and a novel frame-shift mutation in an Asian boy with erythropoietic protoporphyria.
Alagappan Uma, et al. International journal of dermatology 2017 3 (3) 272-276
- 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.
Chiara Matteo, et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 7
- Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits.
Chami Nathalie, et al. American journal of human genetics 2016 6
- A Novel Mutation in the FECH Gene in a Czech Family with Erythropoietic Protoporphyria and a Population Study of IVS3-48C Variant Contributing to the Disease.
Farrag M S, et al. Folia biologica 2015 0 (6) 227-32
- Erythropoietic protoporphyria
From NCATS Genetic and Rare Diseases Information Center
- Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria.
Gouya Laurent, et al. American journal of human genetics 2006 1 (1) 2-14
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
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- Brugada Syndrome
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