Hereditary Coproporphyria
What's New
Last Posted: Mar 03, 2023
- A next-generation-sequencing panel for mutational analysis of dominant acute hepatic porphyrias.
Barman-Aksözen Jasmin, et al. Scandinavian journal of clinical and laboratory investigation 2019 0 (5) 305-313 - Analysis of the mechanism underlying a mild phenotype of hereditary coproporphyria due to a homozygous missense mutation in the transcription initiation codon of the coproporphyrinogen III oxidase gene.
Fukui Tomohisa, et al. Journal of dermatological science 2020 0 (2) 156-159 - ABCB6 polymorphisms are not overly represented in patients with porphyria.
Farrell Colin P, et al. Blood advances 2021 0 (3) 760-766 - Risk of primary liver cancer in acute hepatic porphyria patients: A matched cohort study of 1244 individuals.
Lissing Mattias, et al. Journal of internal medicine 2022 0 (6) 824-836 - Development and validation of diagnostic algorithms for the laboratory diagnosis of porphyrias.
Lefever Stefanie et al. Journal of inherited metabolic disease 2022 - Hereditary coproporphyria
From NCATS Genetic and Rare Diseases Information Center
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- Page last reviewed:Feb 1, 2024
- Page last updated:May 07, 2024
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