Mutation spectrum of the bestrophin-1 gene in a large Chinese cohort with bestrophinopathy

BackgroundBestrophin-1 (BEST1) gene is associated with a wide range of ocular phenotypes, collectively termed as bestrophinopathy. The aim of the current study was to identify the mutation spectrum of BEST1 in a large cohort of Chinese patients with bestrophinopathy.MethodsPatients clinically suspec...

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Veröffentlicht in:	British journal of ophthalmology 2020-06, Vol.104 (6), p.846-851
Hauptverfasser:	Gao, Feng-Juan, Qi, Yu-He, Hu, Fang-Yuan, Wang, Dan-Dan, Xu, Ping, Guo, Jing-Li, Li, Jian-Kang, Zhang, Yong-Jin, Li, Wei, Chen, Fang, Xu, Ge-Zhi, Liu, Wei, Chang, Qing, Wu, Ji-Hong
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Aged Aged, 80 and over Bestrophins - genetics Bestrophins - metabolism Biomarkers - metabolism Child Child, Preschool China - epidemiology DNA - genetics DNA Mutational Analysis Eye Diseases, Hereditary - epidemiology Eye Diseases, Hereditary - genetics Eye Diseases, Hereditary - metabolism Families & family life Female Genes Genomics Humans Male Middle Aged Mutation Prevalence Proteins Retinal Diseases - epidemiology Retinal Diseases - genetics Retinal Diseases - metabolism Retrospective Studies Young Adult
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