A novel mutation GJA8 NM_005267.5: c.124G > A, p.(E42K) causing congenital nuclear cataract
Abstract 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...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2022-04-01
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| Series: | BMC Ophthalmology |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12886-022-02386-y |