A 69 kb Deletion in chr19q13.42 including PRPF31 Gene in a Chinese Family Affected with Autosomal Dominant Retinitis Pigmentosa

We aimed to identify the genetic cause of autosomal dominant retinitis pigmentosa (adRP) and characterize the underlying molecular mechanisms of incomplete penetrance in a Chinese family affected with adRP. All enrolled family members underwent ophthalmic examinations. Whole-genome sequencing (WGS),...

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Detalles Bibliográficos
Autores principales: Lan, Yuanzheng, Chen, Yuhong, Qiao, Yunsheng, Xu, Qingdan, Zhai, Ruyi, Sun, Xinghuai, Wu, Jihong, Chen, Xueli
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9695658/
https://www.ncbi.nlm.nih.gov/pubmed/36431159
http://dx.doi.org/10.3390/jcm11226682

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9695658/
https://www.ncbi.nlm.nih.gov/pubmed/36431159
http://dx.doi.org/10.3390/jcm11226682

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