Chrnd-flox 基因敲除小鼠

1. Soyer, Tutku, Boybeyi, Özlem, Karaosmanoğlu, Beren, Şimşek, Özlem Pelin, Utine, Gülen Eda. 2023. CHRND variant in a paternally inherited esophageal atresia and tracheoesophgageal fistula: Report of a case. In Birth defects research, 116, e2286. doi:10.1002/bdr2.2286. https://pubmed.ncbi.nlm.nih.gov/38087897/

2. Müller, Juliane S, Baumeister, Sarah K, Schara, Ulrike, Lochmüller, Hanns, Abicht, Angela. 2006. CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsyn. In Brain : a journal of neurology, 129, 2784-93. doi:. https://pubmed.ncbi.nlm.nih.gov/16916845/

3. Chen, Caiyuan, Han, Jin, Xue, Jiaxin, Li, Fucheng, Li, Dongzhi. 2023. Case Report: Early diagnosis of lethal multiple pterygium syndrome with micrognathia: Two novel mutations in the CHRND gene. In Frontiers in genetics, 14, 1005624. doi:10.3389/fgene.2023.1005624. https://pubmed.ncbi.nlm.nih.gov/36733345/