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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...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
D.A. Spandidos
2021
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| Materias: | |
| 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 |