Characterization of a novel pathogenic variant in the FECH gene associated with erythropoietic protoporphyria

Characterization of a novel pathogenic variant in the FECH gene associated with erythropoietic protoporphyria

Erythropoietic protoporphyria (EPP) is an autosomal recessive deficiency in heme biosynthesis due to pathogenic variants in the ferrochelatase gene (FECH). Patients present with lifelong photosensitivity and potential liver disease. Here we report a novel FECH variant designated c.904_912+1del found...

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Bibliographic Details
Main Authors: Michele C. Kieke, Jacob Klemm, Arthur Rech Tondin, Victor Alencar, Nathan Johnson, Ashley M. Driver, Thomas Lentz, Gregory J. Fischer, Diane A. Caporale, Luke J. Drury
Format: Article
Language:English
Published: Elsevier 2019-09-01
Series:Molecular Genetics and Metabolism Reports
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426919300679

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http://www.sciencedirect.com/science/article/pii/S2214426919300679

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