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Identification and functional analysis of a novel missense mutation in GJA8, p.Ala69Thr
BACKGROUND: To explore the molecular genetic cause of a four-generation autosomal dominant congenital cataract family in China. METHODS: Targeted region sequencing was performed to screen for the potential mutation, and Sanger sequencing was used to confirm the mutation. The homology model was const...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7678044/ https://www.ncbi.nlm.nih.gov/pubmed/33218330 http://dx.doi.org/10.1186/s12886-020-01725-1 |