Allelic and phenotypic heterogeneity inABCA4mutations
Author:
Publisher
Informa UK Limited
Subject
Genetics(clinical),Ophthalmology,Pediatrics, Perinatology, and Child Health
Link
http://www.tandfonline.com/doi/pdf/10.3109/13816810.2011.565397
Reference66 articles.
1. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Starqardt macular dystrophy
2. Mutation of the Stargardt Disease Gene ( ABCR ) in Age-Related Macular Degeneration
3. ABCA4 mutations and discordant ABCA4 alleles in patients and siblings with bull's-eye maculopathy
4. The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene
5. Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR
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