Exome sequencing for diagnosis of congenital hemolytic anemia

BACKGROUND: Congenital hemolytic anemia constitutes a heterogeneous group of rare genetic disorders of red blood cells. Diagnosis is based on clinical data, family history and phenotypic testing, genetic analyses being usually performed as a late step. In this study, we explored 40 patients with con...

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Veröffentlicht in:Orphanet J Rare Dis
Hauptverfasser: Mansour-Hendili, Lamisse, Aissat, Abdelrazak, Badaoui, Bouchra, Sakka, Mehdi, Gameiro, Christine, Ortonne, Valérie, Wagner-Ballon, Orianne, Pissard, Serge, Picard, Véronique, Ghazal, Khaldoun, Bahuau, Michel, Guitton, Corinne, Mansour, Ziad, Duplan, Mylène, Petit, Arnaud, Costedoat-Chalumeau, Nathalie, Michel, Marc, Bartolucci, Pablo, Moutereau, Stéphane, Funalot, Benoît, Galactéros, Frédéric
Format: Artigo
Sprache:Inglês
Veröffentlicht: BioMed Central 2020
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Research
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7341591/
https://ncbi.nlm.nih.gov/pubmed/32641076
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-020-01425-5
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