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CYP4V2 mutation screening in an Iranian Bietti crystalline dystrophy pedigree and evidence for clustering of CYP4V2 mutations
PURPOSE: To report the genetic analysis of an Iranian Bietti crystalline dystrophy (BCD)-affected family, and to review previously reported mutations in the gene and assess the distribution of affected amino acids in the encoded protein. METHODS: The eleven exons of CYP4V2 were sequenced in the DNA...
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| Опубликовано в: : | J Curr Ophthalmol |
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| Главные авторы: | , , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Elsevier
2019
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6611930/ https://ncbi.nlm.nih.gov/pubmed/31317096 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.joco.2019.01.007 |
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