Case Reports

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

INSERM U1149 CNRS ERL 8252, Centre de Recherche sur l’inflammation, Université Paris Diderot, site Bichat, Sorbonne Paris Cité, France Paris; Laboratory of excellence, GR-EX, Paris
Institute of Predictive and Personalized Medicine of Cancer (IMPPC). Badalona
Universitat Internacional de Catalunya (UIC), Department of Basic Sciences, Iron metabolism: Regulation and Diseases. Sant Cugat del Vallès, Barcelona; BloodGenetics S.L. Diagnostics in Inherited Blood Diseases. Esplugues de Llobregat
INSERM U1149 CNRS ERL 8252, Centre de Recherche sur l’inflammation, Université Paris Diderot, site Bichat, Sorbonne Paris Cité, France Paris; Laboratory of excellence, GR-EX, Paris
Laboratory of excellence, GR-EX, Paris, France; Institute of Predictive and Personalized Medicine of Cancer (IMPPC). Badalona, Barcelona; Universitat Internacional de Catalunya (UIC), Department of Basic Sciences, Iron metabolism: Regulation and Diseases. Sant Cugat del Vallès, Barcelona; BloodGenetics S.L. Diagnostics in Inherited Blood Diseases. Esplugues de Llobregat, Barcelona; AP-HP, Centre Français des Porphyries, Hôpital Louis Mourier, Colombes
Laboratory of excellence, GR-EX, Paris, France; Institute of Predictive and Personalized Medicine of Cancer (IMPPC). Badalona, Barcelona; Universitat Internacional de Catalunya (UIC), Department of Basic Sciences, Iron metabolism: Regulation and Diseases. Sant Cugat del Vallès, Barcelona; BloodGenetics S.L. Diagnostics in Inherited Blood Diseases. Esplugues de Llobregat, Barcelona; AP-HP, Centre Français des Porphyries, Hôpital Louis Mourier, Colombes
Department of Biological Sciences, University of Delaware, Newark, DE
INSERM U1149 CNRS ERL 8252, Centre de Recherche sur l’inflammation, Université Paris Diderot, site Bichat, Sorbonne Paris Cité, France Paris; Laboratory of excellence, GR-EX, Paris, France; Institute of Predictive and Personalized Medicine of Cancer (IMPPC). Badalona
INSERM U1149 CNRS ERL 8252, Centre de Recherche sur l’inflammation, Université Paris Diderot, site Bichat, Sorbonne Paris Cité, France Paris; Laboratory of excellence, GR-EX, Paris, France; AP-HP, Centre Français des Porphyries, Hôpital Louis Mourier, Colombes
INSERM U1149 CNRS ERL 8252, Centre de Recherche sur l’inflammation, Université Paris Diderot, site Bichat, Sorbonne Paris Cité, France Paris; Laboratory of excellence, GR-EX, Paris, France; AP-HP, Centre Français des Porphyries, Hôpital Louis Mourier, Colombes
Universitat Internacional de Catalunya (UIC), Department of Basic Sciences, Iron metabolism: Regulation and Diseases. Sant Cugat del Vallès, Barcelona; BloodGenetics S.L. Diagnostics in Inherited Blood Diseases. Esplugues de Llobregat
Haematologica Early view Feb 18, 2021 https://doi.org/10.3324/haematol.2020.272450