Genotype variant screening and phenotypic analysis of FBN1 in Chinese patients with isolated ectopia lentis

Isolated ectopia lentis (IEL) can lead to blindness as result of severe complications, such as retinal detachment and secondary glaucoma. Pathogenic variants in the fibrillin 1 (FBN1) gene are a common cause of IEL. The aim of the present study was to investigate the frequency of pathogenic FBN1 var...

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Detalles Bibliográficos
Autores principales: Zhou, Yijing, Guo, Dongwei, Cao, Qianzhong, Zhang, Xinyu, Jin, Guangming, Zheng, Danying
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2021
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7893787/
https://www.ncbi.nlm.nih.gov/pubmed/33576469
http://dx.doi.org/10.3892/mmr.2021.11914

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7893787/
https://www.ncbi.nlm.nih.gov/pubmed/33576469
http://dx.doi.org/10.3892/mmr.2021.11914

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