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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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Bibliografiske detaljer
Udgivet i:Mol Med Rep
Main Authors: Zhou, Yijing, Guo, Dongwei, Cao, Qianzhong, Zhang, Xinyu, Jin, Guangming, Zheng, Danying
Format: Artigo
Sprog:Inglês
Udgivet: D.A. Spandidos 2021
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7893787/
https://ncbi.nlm.nih.gov/pubmed/33576469
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/mmr.2021.11914
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