Prevalence and genetic–phenotypic characteristics of patients with USH2A mutations in a large cohort of Chinese patients with inherited retinal disease

AIMS: To investigate the frequency of USH2A mutation and the clinical and genetic differences between Usher syndrome type II (USH2) and retinitis pigmentosa (RP) in a large cohort of Chinese patients. METHODS: A total of 1381 patients with inherited retinal disease (IRD) were recruited. The phenotyp...

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Detalles Bibliográficos
Autores principales: Gao, Feng-Juan, Wang, Dan-Dan, Chen, Fang, Sun, Hao-Xiang, Hu, Fang-Yuan, Xu, Ping, Li, Jiankang, Liu, Wei, Qi, Yu-He, Li, Wei, Wang, Ming, Zhang, Shenghai, Xu, Ge-Zhi, Chang, Qing, Wu, Ji-Hong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2021
Materias:
Clinical Science
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7788223/
https://www.ncbi.nlm.nih.gov/pubmed/32188678
http://dx.doi.org/10.1136/bjophthalmol-2020-315878

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7788223/
https://www.ncbi.nlm.nih.gov/pubmed/32188678
http://dx.doi.org/10.1136/bjophthalmol-2020-315878

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