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An intronic deletion in the PROM1 gene leads to autosomal recessive cone-rod dystrophy
PURPOSE: To investigate the genetic basis for autosomal recessive cone-rod dystrophy (CRD) in a consanguineous Israeli Jewish family. METHODS: Patients underwent a detailed ophthalmic evaluation, including eye examination, visual field testing, optical coherence tomography (OCT), and electrophysiolo...
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| Udgivet i: | Mol Vis |
|---|---|
| Main Authors: | , , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Molecular Vision
2015
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4676936/ https://ncbi.nlm.nih.gov/pubmed/26702251 |
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