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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.
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.
Afiliação
  • Ducamp S; 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.
  • Luscieti S; Institute of Predictive and Personalized Medicine of Cancer (IMPPC). Badalona.
  • Ferrer-Cortès X; 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.
  • Nicolas G; 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.
  • Manceau H; 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; BloodGenet
  • Peoc'h K; 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; BloodGenet
  • Yien YY; Department of Biological Sciences, University of Delaware, Newark, DE.
  • Kannengiesser C; 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.
  • Gouya L; 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.
  • Puy H; 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. herve.puy@aphp.fr.
  • Sanchez M; 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. msanchez@uic.es.
Haematologica ; 106(7): 2030-2033, 2021 07 01.
Article em En | MEDLINE | ID: mdl-33596641
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Protoporfiria Eritropoética Tipo de estudo: Diagnostic_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: Haematologica Ano de publicação: 2021 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Protoporfiria Eritropoética Tipo de estudo: Diagnostic_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: Haematologica Ano de publicação: 2021 Tipo de documento: Article