Učitavanje...
A novel missense mutation in HSF4 causes autosomal-dominant congenital lamellar cataract in a British family
PURPOSE: Inherited cataract, opacification of the lens, is the most common worldwide cause of blindness in children. We aimed to identify the genetic cause of isolated autosomal-dominant lamellar cataract in a five-generation British family. METHODS: Whole exome sequencing (WES) was performed on two...
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| Izdano u: | Eye (Lond) |
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| Glavni autori: | , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Nature Publishing Group
2018
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5898855/ https://ncbi.nlm.nih.gov/pubmed/29243736 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/eye.2017.268 |
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