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Severe iron overload in a woman with homeostatic iron regulator (HFE) and a novel 5'-aminolevulinate synthase 2 (ALAS2) mutations: interactions of multiple genetic determinants.
de Gennes, Christian; Lamoril, Jérôme; Borgel, Adrien; Boi, Camille; Yao, Raphael; Boileau, Catherine; Tchernitchko, Dimitri.
Affiliation
  • de Gennes C; Département de Médecine Interne, AP-HP, Hôpital Pitié-Salpêtrière, Paris, France.
  • Lamoril J; Département de Génétique, AP-HP, Hôpital Bichat, Paris, France.
  • Borgel A; Département de Génétique, AP-HP, Hôpital Bichat, Paris, France.
  • Boi C; Département de Génétique, AP-HP, Hôpital Bichat, Paris, France.
  • Yao R; Département de Génétique, AP-HP, Hôpital Bichat, Paris, France.
  • Boileau C; Département de Génétique, AP-HP, Hôpital Bichat, Paris, France.
  • Tchernitchko D; INSERM U1148, Université de Paris, Paris, France.
Br J Haematol ; 196(2): e17-e20, 2022 01.
Article in En | MEDLINE | ID: mdl-34490613
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Iron Overload / Genetic Predisposition to Disease / Hemochromatosis Protein / 5-Aminolevulinate Synthetase / Mutation Type of study: Prognostic_studies Limits: Adult / Female / Humans Language: En Journal: Br J Haematol Year: 2022 Document type: Article Affiliation country: Francia
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Iron Overload / Genetic Predisposition to Disease / Hemochromatosis Protein / 5-Aminolevulinate Synthetase / Mutation Type of study: Prognostic_studies Limits: Adult / Female / Humans Language: En Journal: Br J Haematol Year: 2022 Document type: Article Affiliation country: Francia