Article
Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital cataract.
Human mutation - 1 May 2009
Zhang Tianxiao, Hua Rui, Xiao Wei, Burdon Kathryn P, Bhattacharya Shomi S, Craig Jamie E, Shang Dandan, Zhao Xiuli, Mackey David A, Moore Anthony T, Luo Yang, Zhang Jinsong, Zhang Xue
Abstract excerpt
Congenital cataracts (CCs) are clinically and genetically heterogeneous. Mutations in the same gene may lead to CCs differing in inheritance, morphology and severity. Loci for autosomal dominant posterior polar CC and total CC have both been mapped to the chromosomal 1p36 region harboring the EPHA2 receptor tyrosine kinase gene. Here, we report mutations of EPHA2 in three CC families from different ancestral...
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