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A novel FBN1 missense mutation (p.C102Y) associated with ectopia lentis syndrome in a Chinese family
AIM: To characterize the disease-causing mutations in a Chinese family with ectopia lentis syndrome (ELS). METHODS: Patients and their family members were given complete physical, ophthalmic, and cardiovascular examinations. Genomic DNA samples were extracted from the peripheral blood of the pedigre...
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| 出版年: | Int J Ophthalmol |
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| 主要な著者: | , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
International Journal of Ophthalmology Press
2015
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4631002/ https://ncbi.nlm.nih.gov/pubmed/26558191 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3980/j.issn.2222-3959.2015.05.01 |
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