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

• 主要な著者: Yena Lee (著者), Yunha Choi (著者), Go Hun Seo (著者), Gu-Hwan Kim (著者), Changwon Keum (著者), Yoo-Mi Kim (著者), Hyo-Sang Do (著者), Jeongmin Choi (著者), In Hee Choi (著者), Han-Wook Yoo (著者), Beom Hee Lee (著者)
• フォーマット: 図書
• 出版事項: BMC, 2021-10-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

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...