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TGFBI gene mutation analysis in a Chinese pedigree of Avellino corneal dystrophy
AIM: To analyze phenotype and genotype of a Chinese pedigree with Avellino corneal dystrophy (ACD). METHODS: Complete ophthalmic examinations were performed on all the family members. Exons of TGFBI were amplified by polymerase chain reaction, sequenced, and compared with a reference database. RESUL...
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| Главные авторы: | , , , , , , , , |
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| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
International Journal of Ophthalmology Press
2011
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3340809/ https://ncbi.nlm.nih.gov/pubmed/22553661 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3980/j.issn.2222-3959.2011.03.13 |
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