Another evidence for a D47N mutation in GJA8 associated with autosomal dominant congenital cataract

PURPOSE: To identify the pathogenic gene mutation in a Chinese family with autosomal dominant inherited nuclear cataract. METHODS: After obtained informed consent, detailed ophthalmic examinations were performed, genomic DNAs were obtained from eighteen family members in a four-generation Chinese fa...

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Detalles Bibliográficos
Autores principales: Wang, Li, Luo, Yi, Wen, Wen, Zhang, Shenghai, Lu, Yi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3171490/
https://www.ncbi.nlm.nih.gov/pubmed/21921990

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3171490/
https://www.ncbi.nlm.nih.gov/pubmed/21921990

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