A novel GJA8 mutation (p.I31T) causing autosomal dominant congenital cataract in a Chinese family

PURPOSE: To identify the genetic defect associated with autosomal dominant congenital nuclear cataract in a Chinese family. METHODS: Family history and clinical data were recorded. The genomic DNA was extracted from peripheral blood leukocytes. All the members were genotyped with microsatellite mark...

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Detalles Bibliográficos
Autores principales: Wang, Kaijie, Wang, Binbin, Wang, Jing, Zhou, Shiyi, Yun, Bo, Suo, Peisu, Cheng, Jie, Ma, Xu, Zhu, Siquan
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2009
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2794658/
https://www.ncbi.nlm.nih.gov/pubmed/20019893

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2794658/
https://www.ncbi.nlm.nih.gov/pubmed/20019893

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