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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...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | J Ophthalmol |
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| Κύριοι συγγραφείς: | , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Hindawi
2019
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| Θέματα: | |
| Διαθέσιμο Online: | 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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