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Novel splice-site mutation in TTLL5 causes cone dystrophy in a consanguineous family
PURPOSE: To report the clinical and genetic findings of one family with autosomal recessive cone dystrophy (CD) and to identify the causative mutation. METHODS: An institutional study of three family members from two generations. The clinical examination included best-corrected Snellen visual acuity...
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| Publicat a: | Mol Vis |
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| Autors principals: | , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Molecular Vision
2017
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5360453/ https://ncbi.nlm.nih.gov/pubmed/28356705 |
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