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Next generation sequencing (NGS) interest in deciphering erythrocyte molecular defects' association in red cell disorders: Clinical and erythrocyte phenotypes of patients with mutations inheritance in PIEZO1, Spectrin ß1, RhAG and SLC4A1.
Allegrini, Benoit; NGuyen, Ludivine David; Mignotet, Morgane; Etchebest, Catherine; Fenneteau, Odile; Platon, Jessica; Lambilliotte, Anne; Guizouarn, Hélène; Da Costa, Lydie.
Affiliation
  • Allegrini B; Université Côte d'Azur, CNRS, Inserm, Institut Biologie Valrose, Nice, France.
  • NGuyen LD; AP-HP, Service Hématologie Biologique, Hôpital R. Debré, Paris, France.
  • Mignotet M; Université Côte d'Azur, CNRS, Inserm, Institut Biologie Valrose, Nice, France.
  • Etchebest C; Inserm U1134, France; Laboratory of Excellence for RBCs, LABEX GR-Ex, 75015 Paris, France.
  • Fenneteau O; AP-HP, Service Hématologie Biologique, Hôpital R. Debré, Paris, France.
  • Platon J; HEMATIM EA4666, Université Picardie Jules Vernes, Amiens, France.
  • Lambilliotte A; CHU Lille, Service Hématologie Pédiatrique, Lille, France.
  • Guizouarn H; Université Côte d'Azur, CNRS, Inserm, Institut Biologie Valrose, Nice, France; Laboratory of Excellence for RBCs, LABEX GR-Ex, 75015 Paris, France. Electronic address: helene.guizouarn@univ-cotedazur.fr.
  • Da Costa L; AP-HP, Service Hématologie Biologique, Hôpital R. Debré, Paris, France; HEMATIM EA4666, Université Picardie Jules Vernes, Amiens, France; Université Paris, Paris, France; Inserm U1134, France.
Blood Cells Mol Dis ; 103: 102780, 2023 11.
Article in En | MEDLINE | ID: mdl-37516005

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Spherocytosis, Hereditary / Hematologic Diseases Type of study: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limits: Humans Language: En Journal: Blood Cells Mol Dis Journal subject: HEMATOLOGIA Year: 2023 Document type: Article Affiliation country: Francia Country of publication: Estados Unidos

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Spherocytosis, Hereditary / Hematologic Diseases Type of study: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limits: Humans Language: En Journal: Blood Cells Mol Dis Journal subject: HEMATOLOGIA Year: 2023 Document type: Article Affiliation country: Francia Country of publication: Estados Unidos