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Article

A mutation in the iron-responsive element of ALAS2 is a modifier of disease severity in a patient suffering from CLPX associated erythropoietic protoporphyria.

Haematologica - 1 Jul 2021

Ducamp Sarah, Luscieti Sara, Ferrer-Cortès Xènia, Nicolas Gaël, Manceau Hana, Peoc'h Katell, Yien Yvette Y, Kannengiesser Caroline, Gouya Laurent, Puy Herve, Sanchez Mayka

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Share to 5-Aminolevulinate Synthetase
Share to Endopeptidase Clp
Share to Heme Oxygenase-1 and Carbon Monoxide

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Porphyrin Metabolism and Disorders

Share to Protoporphyria, Erythropoietic

Share to Severity of Illness Index

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Identifiers

PMID: 33596641
DOI: 10.3324/haematol.2020.272450
PMCID: PMC8252951

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A mutation in the iron-responsive element of ALAS2 is a modifier of disease severity in a patient suffering from CLPX associated erythropoietic protoporphyria.PMID 33596641Read ↗

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