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Whole-exome sequencing reveals a novel CHM gene mutation in a family with choroideremia initially diagnosed as retinitis pigmentosa
BACKGROUND: Genomic mutations in about 200 genes are associated with hereditary retinal diseases. In this study, we screened for the disease-causing gene mutation in a family with X-linked retinal degenerative disease. METHODS: Pedigree data were collected and genomic DNA was isolated from periphera...
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| Publicado no: | BMC Ophthalmol |
|---|---|
| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2015
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4517409/ https://ncbi.nlm.nih.gov/pubmed/26216097 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12886-015-0081-4 |
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