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Article

Identification and functional analysis of a novel missense mutation in GJA8, p.Ala69Thr.

BMC ophthalmology - 20 Nov 2020

Li Dandan, Xu Chenjia, Huang Dandan, Guo Ruru, Ji Jian, Liu Wei

Abstract excerpt

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 constructed to identify the protein structural change, PolyPhen-2 and Provean were used to predict the mutation impact....

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Identifiers

PMID: 33218330
DOI: 10.1186/s12886-020-01725-1
PMCID: PMC7678044

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