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A novel GUCY2D mutation in a Chinese family with dominant cone dystrophy
PURPOSE: To describe the clinical and genetic findings in a Chinese family with autosomal dominant cone dystrophy (adCOD). METHODS: One family was examined clinically, and genomic DNA was extracted from venous blood of all participants. Genotyping and haplotyping analysis was performed on the known...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Molecular Vision
2013
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3668702/ https://www.ncbi.nlm.nih.gov/pubmed/23734073 |