A nonsense mutation in the CUL3 gene in a Chinese patient with autism spectrum disorder and epilepsy: A case report

CUL3 (OMIM: 603136) encodes cullin-3, a core component of ubiquitin E3 ligase. Existing medical research suggests that CUL3 mutations are closely related to neurodevelopmental disorder with or without autism or seizures (neurodevelopmental disorder with autism and seizures, OMIM: 619239). However, t...

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Detalles Bibliográficos
Autores principales: Qian, Meijia, Lin, Shuangzhu, Tan, Yangyang, Chen, Qiandui, Wang, Wanqi, Li, Jiayi, Mu, Chunyu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2022
Materias:
6200
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10082260/
https://www.ncbi.nlm.nih.gov/pubmed/37026922
http://dx.doi.org/10.1097/MD.0000000000033457

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10082260/
https://www.ncbi.nlm.nih.gov/pubmed/37026922
http://dx.doi.org/10.1097/MD.0000000000033457

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