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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Dades bibliogràfiques
Publicat a:Br J Ophthalmol
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: BMJ Publishing Group 2021
Matèries:
Clinical Science
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7788223/
https://ncbi.nlm.nih.gov/pubmed/32188678
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bjophthalmol-2020-315878
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