Phenotypic and molecular spectra of patients with switch/sucrose nonfermenting complex-related intellectual disability disorders in Korea

• Главные авторы: Yena Lee (Автор), Yunha Choi (Автор), Go Hun Seo (Автор), Gu-Hwan Kim (Автор), Changwon Keum (Автор), Yoo-Mi Kim (Автор), Hyo-Sang Do (Автор), Jeongmin Choi (Автор), In Hee Choi (Автор), Han-Wook Yoo (Автор), Beom Hee Lee (Автор)
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• Опубликовано: BMC, 2021-10-01T00:00:00Z.
• Предметы: article
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Abstract Background The switch/sucrose nonfermenting (SWI/SNF) complex is an adenosine triphosphate-dependent chromatin-remodeling complex associated with the regulation of DNA accessibility. Germline mutations in the components of the SWI/SNF complex are related to human developmental disorders, in...