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Exome sequencing for diagnosis of congenital hemolytic anemia
Orphanet Journal of Rare Diseases Open Access 08 July 2020
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Acknowledgements
We are grateful to the patients and their parents, and The Catholic Genetic Laboratory Center for assisting us in carrying out this study and compiling this report. This study was supported by a grant of the Korea Health technology R&D Project, Ministry of Health & Welfare, Republic of Korea (A120175 and HI14C3417).
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Kim, M., Park, J., Lee, J. et al. Hemolytic anemia with null PKLR mutations identified using whole exome sequencing and cured by hematopoietic stem cell transplantation combined with splenectomy. Bone Marrow Transplant 51, 1605–1608 (2016). https://doi.org/10.1038/bmt.2016.218
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DOI: https://doi.org/10.1038/bmt.2016.218
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Exome sequencing for diagnosis of congenital hemolytic anemia
Orphanet Journal of Rare Diseases (2020)