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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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논문 기본 정보
- 자료유형
- 학술대회자료
- 저자정보
- 발행연도
- 2021.1
- 수록면
- 27 - 27 (1page)
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초록· 키워드
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SPONASTRIME dysplasia is a rare recessive skeletal dysplasia characterized by short stature, facial dysmorphism and aberrant radiographic findings of the spine and long bone metaphysis. No causative genetic alterations for SPONASTRIME dysplasia have yet been determined. Using whole exome sequencing, we identified biallelic TONSL mutations in 10 of 13 individuals with SPONASTRIME dysplasia. TONSL is a multi-domain scaffold protein that interacts with DNA replication and repair factors and plays critical roles in resistance to replication stress and maintenance of genome integrity. We ... 전체 초록 보기
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UCI(KEPA) : I410-ECN-0101-2021-528-001569125