Article
A new congenital nuclear cataract caused by a missense mutation in the gammaD-crystallin gene (CRYGD) in a Chinese family.
Molecular vision - 9 Nov 2005
Gu Jingzhi, Qi Yanhua, Wang Li, Wang Jin, Shi Lisong, Lin Hui, Li Xiang, Su Hong, Huang Shangzhi
Abstract excerpt
PURPOSE: To identify genetic defects associated with nuclear golden crystal autosomal dominant congenital cataract (ADCC) in a Chinese pedigree in the north of China. METHODS: Clinical data were collected and the phenotype of the affected members in this family was recorded by slit lamp photography. Genomic DNA was isolated from peripheral blood. Linkage analyses excluded all known loci except that in 2q33-q35....
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