Your browser doesn't support javascript.
loading
Mutation in human CLPX elevates levels of δ-aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyria.
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.
Afiliación
  • Yien YY; Division of Hematology, Brigham & Women's Hospital, Harvard Medical School, Boston, MA 02115.
  • Ducamp S; INSERM U1149, CNRS ERL 8252, Centre de Recherche sur l'inflammation, Université Paris Diderot, Site Bichat, Sorbonne Paris Cité, 75018 Paris, France.
  • van der Vorm LN; Assistance Publique-Hôpitaux de Paris, Centre Français des Porphyries, Hôpital Louis Mourier, 92701 Colombes Cedex, France.
  • Kardon JR; Laboratory of Excellence, GR-Ex, 75015 Paris, France.
  • Manceau H; Division of Hematology, Brigham & Women's Hospital, Harvard Medical School, Boston, MA 02115.
  • Kannengiesser C; Department of Biology, Massachusetts Institute of Technology, Cambridge, MA 02139.
  • Bergonia HA; Howard Hughes Medical Institute, Massachusetts Institute of Technology, Cambridge, MA 02139.
  • Kafina MD; INSERM U1149, CNRS ERL 8252, Centre de Recherche sur l'inflammation, Université Paris Diderot, Site Bichat, Sorbonne Paris Cité, 75018 Paris, France.
  • Karim Z; Assistance Publique-Hôpitaux de Paris, Centre Français des Porphyries, Hôpital Louis Mourier, 92701 Colombes Cedex, France.
  • Gouya L; Laboratory of Excellence, GR-Ex, 75015 Paris, France.
  • Baker TA; INSERM U1149, CNRS ERL 8252, Centre de Recherche sur l'inflammation, Université Paris Diderot, Site Bichat, Sorbonne Paris Cité, 75018 Paris, France.
  • Puy H; Laboratory of Excellence, GR-Ex, 75015 Paris, France.
  • Phillips JD; Département de Génétique, Assistance Publique-Hôpitaux de Paris, HUPNVS, Hôpital Bichat, 75877 Paris Cedex, France.
  • Nicolas G; Division of Hematology, University of Utah School of Medicine, Salt Lake City, UT 84112.
  • Paw BH; Division of Hematology, Brigham & Women's Hospital, Harvard Medical School, Boston, MA 02115.
Proc Natl Acad Sci U S A ; 114(38): E8045-E8052, 2017 09 19.
Article en En | MEDLINE | ID: mdl-28874591
Asunto(s)
Palabras clave
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Protoporfirinas / Porfiria Eritropoyética / Mutación Missense / Endopeptidasa Clp / 5-Aminolevulinato Sintetasa Tipo de estudio: Prognostic_studies Límite: Adolescent / Female / Humans / Male Idioma: En Revista: Proc Natl Acad Sci U S A Año: 2017 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Protoporfirinas / Porfiria Eritropoyética / Mutación Missense / Endopeptidasa Clp / 5-Aminolevulinato Sintetasa Tipo de estudio: Prognostic_studies Límite: Adolescent / Female / Humans / Male Idioma: En Revista: Proc Natl Acad Sci U S A Año: 2017 Tipo del documento: Article