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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
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  Data: Biallelic mutations in the SARS2 gene presenting as congenital sideroblastic anemia.
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  Data: <searchLink fieldCode="AU" term="%22Colin+E%22">Colin E</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Courtois+G%22">Courtois G</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Brouzes+C%22">Brouzes C</searchLink>; Hematology Laboratory, Hôpital Necker-Enfants Malades, Assistance publique-Hôpitaux de Paris (AP-HP), Paris.<br /><searchLink fieldCode="AU" term="%22Pulman+J%22">Pulman J</searchLink>; Laboratory for Genetics of Mitochondrial Disorders, INSERM U1163, Imagine Institute, University of Paris, Paris.<br /><searchLink fieldCode="AU" term="%22Rabant+M%22">Rabant M</searchLink>; Department of Pathology, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris, University of Paris, Paris.<br /><searchLink fieldCode="AU" term="%22Rötig+A%22">Rötig A</searchLink>; Laboratory for Genetics of Mitochondrial Disorders, INSERM U1163, Imagine Institute, University of Paris, Paris.<br /><searchLink fieldCode="AU" term="%22Taffin+H%22">Taffin H</searchLink>; Department of Pediatric Nephrology, MARHEA, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris.<br /><searchLink fieldCode="AU" term="%22Lion-Lambert+M%22">Lion-Lambert M</searchLink>; Department of Pediatric Nephrology, MARHEA, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris.<br /><searchLink fieldCode="AU" term="%22Fabrega+S%22">Fabrega S</searchLink>; VVTG platform, SFR Necker, Paris.<br /><searchLink fieldCode="AU" term="%22Da+Costa+L%22">Da Costa L</searchLink>; Hematology Laboratory, Robert Debré Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France, University of Paris, Laboratory of Excellence GR-Ex, Paris.<br /><searchLink fieldCode="AU" term="%22De+Montalembert+M%22">De Montalembert M</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Salomon+R%22">Salomon R</searchLink>; Department of Pediatric Nephrology, MARHEA, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris.<br /><searchLink fieldCode="AU" term="%22Hermine+O%22">Hermine O</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Couronné+L%22">Couronné L</searchLink>; 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.
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  Data: <searchLink fieldCode="JN" term="%220417435%22">Haematologica</searchLink> [Haematologica] 2021 Dec 01; Vol. 106 (12), pp. 3202-3205. <i>Date of Electronic Publication: </i>2021 Dec 01.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Ferrata+Storti+Foundation%22">Ferrata Storti Foundation </searchLink><i>Country of Publication: </i>Italy <i>NLM ID: </i>0417435 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1592-8721 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2203906078%22">03906078 </searchLink><i>NLM ISO Abbreviation: </i>Haematologica <i>Subsets: </i>MEDLINE
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        Value: 10.3324/haematol.2021.279138
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        Text: English
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