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Identification of a novel RHO heterozygous nonsense mutation in a Chinese family with autosomal dominant retinitis pigmentosa
BACKGROUND: To explore the molecular genetic cause of a four-generation autosomal dominant retinitis pigmentosa family in China. METHODS: Targeted region sequencing was performed to detect the potential mutation, and Sanger sequencing was used to validate the mutation. Multiple sequence alignment fr...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8504003/ https://www.ncbi.nlm.nih.gov/pubmed/34635090 http://dx.doi.org/10.1186/s12886-021-02125-9 |