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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...

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Detalles Bibliográficos
Autores principales: Li, Dandan, Xu, Chenjia, Huang, Dandan, Guo, Ruru, Ji, Jian, Liu, Wei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
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