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Somatic uniparental disomy mitigates the most damaging EFL1 allele combination in Schwachman-Diamond syndrome
Sangmoon Lee, Chang Hoon Shin, Jawon Lee, Seong Dong Jeong, Che Ry Hong, Jun-Dae Kim, Ah-Ra Kim, Soo Jin Son, Oleksandr Kokhan, Taekyeong Yoo, Jae Sung Ko, Young Bae Sohn, Ok-Hwa Kim, Jung Min Ko, Tae-Joon Cho, Nathan T. Wright, Je Kyung Seong, Suk-Won Jin, Hyoung Jin Kang, Hyeon Ho Kim, View ORCID ProfileMurim Choi
doi: https://doi.org/10.1101/483362
Sangmoon Lee
1Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea
Chang Hoon Shin
2Department of Health Sciences and Technology, Samsung Advanced Institute for Health Sciences and Technology, Sungkyunkwan University, Seoul, Republic of Korea
Jawon Lee
1Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea
Seong Dong Jeong
2Department of Health Sciences and Technology, Samsung Advanced Institute for Health Sciences and Technology, Sungkyunkwan University, Seoul, Republic of Korea
Che Ry Hong
3Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea
Jun-Dae Kim
4Yale Cardiovascular Research Center, Section of Cardiovascular Medicine, Department of Internal Medicine, Yale University School of Medicine, New Haven, CT, USA
Ah-Ra Kim
5School of Life Sciences, Gwangju Institute of Science and Technology, Gwangju, Republic of Korea
Soo Jin Son
6Laboratory of Developmental Biology and Genomics, Research Institute for Veterinary Science, and BK21 PLUS Program for Creative Veterinary Science Research, College of Veterinary Medicine, Seoul National University, Seoul, Republic of Korea
7Korea Mouse Phenotyping Center (KMPC), Seoul National University, Seoul, Republic of Korea
Oleksandr Kokhan
8Department of Chemistry and Biochemistry, James Madison University, Harrisonburg, VA, USA
Taekyeong Yoo
1Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea
Jae Sung Ko
3Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea
Young Bae Sohn
9Department of Medical Genetics, Ajou University Hospital, Ajou University School of Medicine, Suwon, Republic of Korea
Ok-Hwa Kim
10Department of Radiology, Woorisoa Children’s Hospital, Seoul, Republic of Korea
Jung Min Ko
3Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea
Tae-Joon Cho
11Department of Orthopaedic Surgery, Seoul National University College of Medicine, Seoul, Republic of Korea
Nathan T. Wright
8Department of Chemistry and Biochemistry, James Madison University, Harrisonburg, VA, USA
Je Kyung Seong
6Laboratory of Developmental Biology and Genomics, Research Institute for Veterinary Science, and BK21 PLUS Program for Creative Veterinary Science Research, College of Veterinary Medicine, Seoul National University, Seoul, Republic of Korea
7Korea Mouse Phenotyping Center (KMPC), Seoul National University, Seoul, Republic of Korea
12Interdisciplinary Program for Bioinformatics, Program for Cancer Biology and BIO-MAX/N-Bio Institute, Seoul National University, Seoul, Republic of Korea
Suk-Won Jin
4Yale Cardiovascular Research Center, Section of Cardiovascular Medicine, Department of Internal Medicine, Yale University School of Medicine, New Haven, CT, USA
5School of Life Sciences, Gwangju Institute of Science and Technology, Gwangju, Republic of Korea
Hyoung Jin Kang
3Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea
13Seoul National University Cancer Research Institute, Seoul, Republic of Korea
Hyeon Ho Kim
2Department of Health Sciences and Technology, Samsung Advanced Institute for Health Sciences and Technology, Sungkyunkwan University, Seoul, Republic of Korea
14Institute for Future Medicine, Samsung Medical Center, Seoul, Republic of Korea
Murim Choi
1Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea
3Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea
Article usage
Posted January 12, 2021.
Somatic uniparental disomy mitigates the most damaging EFL1 allele combination in Schwachman-Diamond syndrome
Sangmoon Lee, Chang Hoon Shin, Jawon Lee, Seong Dong Jeong, Che Ry Hong, Jun-Dae Kim, Ah-Ra Kim, Soo Jin Son, Oleksandr Kokhan, Taekyeong Yoo, Jae Sung Ko, Young Bae Sohn, Ok-Hwa Kim, Jung Min Ko, Tae-Joon Cho, Nathan T. Wright, Je Kyung Seong, Suk-Won Jin, Hyoung Jin Kang, Hyeon Ho Kim, Murim Choi
bioRxiv 483362; doi: https://doi.org/10.1101/483362
Somatic uniparental disomy mitigates the most damaging EFL1 allele combination in Schwachman-Diamond syndrome
Sangmoon Lee, Chang Hoon Shin, Jawon Lee, Seong Dong Jeong, Che Ry Hong, Jun-Dae Kim, Ah-Ra Kim, Soo Jin Son, Oleksandr Kokhan, Taekyeong Yoo, Jae Sung Ko, Young Bae Sohn, Ok-Hwa Kim, Jung Min Ko, Tae-Joon Cho, Nathan T. Wright, Je Kyung Seong, Suk-Won Jin, Hyoung Jin Kang, Hyeon Ho Kim, Murim Choi
bioRxiv 483362; doi: https://doi.org/10.1101/483362
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