Exome sequencing for diagnosis of congenital hemolytic anemia

Exome sequencing for diagnosis of congenital hemolytic anemia

Abstract 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...

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Bibliographic Details
Main Authors: Lamisse Mansour-Hendili, Abdelrazak Aissat, Bouchra Badaoui, Mehdi Sakka, Christine Gameiro, Valérie Ortonne, Orianne Wagner-Ballon, Serge Pissard, Véronique Picard, Khaldoun Ghazal, Michel Bahuau, Corinne Guitton, Ziad Mansour, Mylène Duplan, Arnaud Petit, Nathalie Costedoat-Chalumeau, Marc Michel, Pablo Bartolucci, Stéphane Moutereau, Benoît Funalot, Frédéric Galactéros
Format: Article
Language:English
Published: BMC 2020-07-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Hemolysis
Red blood cell
Membrane
NGS
Anemia
Congenital
Online Access:http://link.springer.com/article/10.1186/s13023-020-01425-5

Internet

http://link.springer.com/article/10.1186/s13023-020-01425-5

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