Biallelic mutations in the SARS2 gene presenting as congenital sideroblastic anemia.

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Title: Biallelic mutations in the SARS2 gene presenting as congenital sideroblastic anemia.
Authors: Colin E; Laboratory of cellular and molecular mechanisms of hematological disorders and therapeutic implications, INSERM U1163, Imagine Institute, University of Paris, Laboratory of Excellence GR-Ex, Paris. elia.colin@hotmail.fr., Courtois G; Laboratory of cellular and molecular mechanisms of hematological disorders and therapeutic implications, INSERM U1163, Imagine Institute, University of Paris, Laboratory of Excellence GR-Ex, Paris., Brouzes C; Hematology Laboratory, Hôpital Necker-Enfants Malades, Assistance publique-Hôpitaux de Paris (AP-HP), Paris., Pulman J; Laboratory for Genetics of Mitochondrial Disorders, INSERM U1163, Imagine Institute, University of Paris, Paris., Rabant M; Department of Pathology, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris, University of Paris, Paris., Rötig A; Laboratory for Genetics of Mitochondrial Disorders, INSERM U1163, Imagine Institute, University of Paris, Paris., Taffin H; Department of Pediatric Nephrology, MARHEA, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris., Lion-Lambert M; Department of Pediatric Nephrology, MARHEA, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris., Fabrega S; VVTG platform, SFR Necker, Paris., Da Costa L; Hematology Laboratory, Robert Debré Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France, University of Paris, Laboratory of Excellence GR-Ex, Paris., De Montalembert M; Department of General Pediatrics and Pediatric Infectious Diseases, Reference Center for Sickle Cell Disease, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris (AP-HP), Université de Paris, Paris., Salomon R; Department of Pediatric Nephrology, MARHEA, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris., Hermine O; Hematology Department, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris (APHP), Laboratory of cellular and molecular mechanisms of hematological disorders and therapeutical Implications, INSERM U1163, Imagine Institute; University of Paris, Laboratory of Excellence GR-Ex, Paris., Couronné L; Laboratory of Onco-Hematology, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris (APHP), Laboratory of cellular and molecular mechanisms of hematological disorders and therapeutical Implications, INSERM U1163, Imagine Institute, University of Paris, Laboratory of Excellence GR-Ex, Paris.
Source: Haematologica [Haematologica] 2021 Dec 01; Vol. 106 (12), pp. 3202-3205. Date of Electronic Publication: 2021 Dec 01.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Ferrata Storti Foundation Country of Publication: Italy NLM ID: 0417435 Publication Model: Electronic Cited Medium: Internet ISSN: 1592-8721 (Electronic) Linking ISSN: 03906078 NLM ISO Abbreviation: Haematologica Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1592-8721
DOI:10.3324/haematol.2021.279138