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A novel mutation GJA8 NM_005267.5: c.124G > A, p.(E42K) causing congenital nuclear cataract
BACKGROUND: To identify the genetic mutation of a four-generation autosomal dominant congenital cataract family in China. METHODS: Targeted region sequencing containing 778 genes associated with ocular diseases was performed to screen for the potential mutation, and Sanger sequencing was used to con...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9013174/ https://www.ncbi.nlm.nih.gov/pubmed/35428228 http://dx.doi.org/10.1186/s12886-022-02386-y |