Učitavanje...
Novel mutations in RPE65 identified in consanguineous Pakistani families with retinal dystrophy
PURPOSE: To identify pathogenic mutations responsible for retinal dystrophy in three consanguineous Pakistani families. METHODS: A thorough ophthalmic examination including fundus examination and electroretinography was performed, and blood samples were collected from all participating members. Geno...
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| Glavni autori: | , , , , , , , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Molecular Vision
2013
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3716412/ https://ncbi.nlm.nih.gov/pubmed/23878505 |
| Oznake: |
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