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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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| Yayımlandı: | Mol Med Rep |
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| Asıl Yazarlar: | , , , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
D.A. Spandidos
2021
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| Konular: | |
| Online Erişim: | 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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