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Keywords: Splicing defect
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Journal Articles
Dis Model Mech (2017) 10 (3): 225–233.
Published: 1 March 2017
... disease associated with extreme pain after light exposure. Liver dysfunction Mouse model Photosensitivity Protoporphyrin IX (PPIX) Rare disease Splicing defect Erythropoietic protoporphyria (EPP; MIM 177000) is a rare hereditary disorder of heme biosynthesis. Its most frequent cause...
Includes: Supplementary data