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Novel mutations in CRYBB1/CRYBB2 identified by targeted exome sequencing in Chinese families with congenital cataract
AIM: To summarize the phenotypes and identify the underlying genetic cause of the CRYBB1 and CRYBB2 gene responsible for congenital cataract in two Chinese families. METHODS: Detailed family histories and clinical data were collected from patients during an ophthalmologic examination. Of 523 inherit...
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| Publié dans: | Int J Ophthalmol |
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| Auteurs principaux: | , , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
International Journal of Ophthalmology Press
2018
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6192965/ https://ncbi.nlm.nih.gov/pubmed/30364188 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.18240/ijo.2018.10.01 |
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