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...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2019-06-01
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| Series: | Journal of Current Ophthalmology |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2452232518302701 |