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The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2
Lisa Riley
1
Matthew Heeney
Joëlle Rudinger-Thirion
2
Magali Frugier
2
Dean Campagna
Ronghao Zhou
Gregory Hale
3
Lee Hilliard
Joel Kaplan
Janet Kwiatkowski
Colin Sieff
David Steensma
Alexander Rennings
Annet Simons
Nicolaas Schaap
Richard Roodenburg
Tjitske Kleefstra
4
Leonor Arenillas
Josep Fita-Torró
Rasha Ahmed
Miguel Abboud
Elie Bechara
Roula Farah
5
Rienk Tamminga
Sylvia Bottomley
Mayka Sanchez
Gerwin Huls
Dorine Swinkels
John Christodoulou
6
Mark Fleming
John Christodoulou 6
Author
Mark Fleming
Author
1
Genetic Metabolic Disorders Research Unit (2145, Sydney - Australia)
- Westmead Hospital [Sydney] (Sydney - Australia)
- Kids Research Institute (France)
2
ARN - Architecture et Réactivité de l'ARN (Institut de Biologie Moléculaire et Cellulaire 15 rue René Descartes 67084 STRASBOURG Cedex - France)
- IBMC - Institut de biologie moléculaire et cellulaire (I.B.M.C. 15 Rue René Descartes 67084 STRASBOURG CEDEX - France)
- UNISTRA - Université de Strasbourg (4 rue Blaise Pascal - CS 90032 - 67081 Strasbourg cedex - France)
- CNRS - Centre National de la Recherche Scientifique : FRC1589 (France)
- CNRS - Centre National de la Recherche Scientifique : UPR9002 (France)
- UNISTRA - Université de Strasbourg (4 rue Blaise Pascal - CS 90032 - 67081 Strasbourg cedex - France)
3
St Jude Children's Research Hospital (Memphis, TN 38105-3678 - United States)
4
849 Department of Human Genetics (Nijmegen - Netherlands)
- Radboud University Medical Center [Nijmegen] (P.O. Box 9101 6500 HB Nijmegen - Netherlands)
5
Balamand University Medical School (France)
6
Genetic Metabolic Disorders Research Unit (Hospital at Westmead Sidney 2145 - Australia)
- Westmead Hospital [Sydney] (Sydney - Australia)
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Journal articles
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https://hal-cnrs.archives-ouvertes.fr/hal-02118688
Contributor : Sandra Mathelin Connect in order to contact the contributor
Submitted on : Friday, May 3, 2019 - 11:38:35 AM
Last modification on : Wednesday, May 5, 2021 - 10:50:02 AM
Contributor : Sandra Mathelin Connect in order to contact the contributor
Submitted on : Friday, May 3, 2019 - 11:38:35 AM
Last modification on : Wednesday, May 5, 2021 - 10:50:02 AM
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- HAL Id : hal-02118688, version 1
- DOI : 10.3324/haematol.2017.182659
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Citation
Lisa Riley, Matthew Heeney, Joëlle Rudinger-Thirion, Magali Frugier, Dean Campagna, et al.. The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2. Haematologica, Ferrata Storti Foundation, 2018, 103 (12), pp.2008-2015. ⟨10.3324/haematol.2017.182659⟩. ⟨hal-02118688⟩
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