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Novel compound heterozygous mutations in CNGA1in a Chinese family affected with autosomal recessive retinitis pigmentosa by targeted sequencing
BACKGROUND: About 37 genes have been reported to be involved in autosomal recessive retinitis pigmentosa, a hereditary retinal disease. However, causative genes remain unclear in a lot of cases. METHODS: Two sibs of a Chinese family with ocular disease were diagnosed in Eye and ENT Hospital of Fudan...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2016
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4938971/ https://www.ncbi.nlm.nih.gov/pubmed/27391953 http://dx.doi.org/10.1186/s12886-016-0281-6 |