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...

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Detalles Bibliográficos
Autores principales: Guo, Ruru, Huang, Dandan, Ji, Jian, Liu, Wei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
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

Internet

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

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