Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 4 (of 4 Records) |
Query Trace: Hereditary Coproporphyria[original query] |
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A next-generation-sequencing panel for mutational analysis of dominant acute hepatic porphyrias. Scandinavian journal of clinical and laboratory investigation 2019 6 79 (5): 305-313. Barman-Aksözen Jasmin, Suter Lukas, Wegmann Franziska, Meienberg Janine, Minder Anna Elisabeth, Beer Marc, Komminoth Paul, Minder Elisabeth I, Schneider-Yin Xiao |
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. Journal of dermatological science 2020 10 100 (2): 156-159. Fukui Tomohisa, Akasaka Eijiro, Rokunohe Daiki, Matsuzaki Yasushi, Sawamura Daisuke, Kabashima Kenji, Nakano Haji |
ABCB6 polymorphisms are not overly represented in patients with porphyria. Blood advances 2021 11 6 (3): 760-766. Farrell Colin P, Nicolas Gäel, Desnick Robert J, Parker Charles J, Lamoril Jerome, Gouya Laurent, Karim Zoubida, Tchernitchko Dimitri, Chan Brenden, Puy Herve, Phillips John |
Risk of primary liver cancer in acute hepatic porphyria patients: A matched cohort study of 1244 individuals. Journal of internal medicine 2022 2 291 (6): 824-836. Lissing Mattias, Vassiliou Daphne, Floderus Ylva, Harper Pauline, Bottai Matteo, Kotopouli Marianna, Hagström Hannes, Sardh Eliane, Wahlin Staff |
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- Page last updated:Apr 29, 2024
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