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A Missense Mutation in OPA1 Causes Dominant Optic Atrophy in a Chinese Family
BACKGROUND: To investigate the genetic causes and clinical characteristics of dominant optic atrophy (DOA) in a Chinese family. METHODS: A 5-generation pedigree of 35 family members including 12 individuals affected with DOA was recruited from Shenzhen Eye Hospital, China. Four affected family membe...
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| 出版年: | 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: |
Hindawi
2019
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6875404/ https://ncbi.nlm.nih.gov/pubmed/31781369 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2019/1424928 |
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