A de novo missense mutation in MPP2 confers an increased risk of Vogt–Koyanagi–Harada disease as shown by trio-based whole-exome sequencing

Vogt–Koyanagi–Harada (VKH) disease is a leading cause of blindness in young and middle-aged people. However, the etiology of VKH disease remains unclear. Here, we performed the first trio-based whole-exome sequencing study, which enrolled 25 VKH patients and 50 controls, followed by a study of 2081...

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Detalles Bibliográficos
Autores principales: Liu, Xianyang, Meng, Jiayu, Liao, Xingyun, Liu, Yusen, Zhou, Qian, Xu, Zongren, Yin, Shuming, Cao, Qingfeng, Su, Guannan, He, Siyuan, Li, Wanqian, Wang, Xiaotang, Wang, Guoqing, Li, Dali, Yang, Peizeng, Hou, Shengping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10616125/
https://www.ncbi.nlm.nih.gov/pubmed/37828081
http://dx.doi.org/10.1038/s41423-023-01088-9

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