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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Detalhes bibliográficos
Publicado no:Proc Natl Acad Sci U S A
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 2017
Assuntos:
PNAS Plus
Acesso em linha: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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