Mutation in human CLPX elevates levels of δ-aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyria

Loss-of-function mutations in genes for heme biosynthetic enzymes can give rise to congenital porphyrias, eight forms of which have been described. The genetic penetrance of the porphyrias is clinically variable, underscoring the role of additional causative, contributing, and modifier genes. We pre...

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書誌詳細
出版年:Proc Natl Acad Sci U S A
主要な著者: Yien, Yvette Y., Ducamp, Sarah, van der Vorm, Lisa N., Kardon, Julia R., Manceau, Hana, Kannengiesser, Caroline, Bergonia, Hector A., Kafina, Martin D., Karim, Zoubida, Gouya, Laurent, Baker, Tania A., Puy, Hervé, Phillips, John D., Nicolas, Gaël, Paw, Barry H.
フォーマット: Artigo
言語:Inglês
出版事項: National Academy of Sciences 2017
主題:
PNAS Plus
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC5617249/
https://ncbi.nlm.nih.gov/pubmed/28874591
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1700632114
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