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Advanced molecular approaches pave the road to a clear-cut diagnosis of hereditary retinal dystrophies
PURPOSE: The aim of this study was to identify the molecular genetic basis of hereditary retinal dystrophies (HRDs) in five unrelated Iranian families. METHODS: Whole exome sequencing and Sanger sequencing were performed in all families. Variants were analyzed using various bioinformatics databases...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Molecular Vision
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6197863/ https://www.ncbi.nlm.nih.gov/pubmed/30416334 |