Alpha-b crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans
(2001)
Journal Article
Berry, V., Francis, P., Reddy, M., Collyer, D., Vithana, E., MacKay, I., …Quinlan, R. (2001). Alpha-b crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans. American Journal of Human Genetics, 69(5), 1141-1145. https://doi.org/10.1086/324158
Congenital cataracts are an important cause of bilateral visual impairment in infants. In a four-generation family of English descent, we mapped dominant congenital posterior polar cataract to chromosome 11q22-q22.3. The maximum LOD score, 3.92 at re... Read More about Alpha-b crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans.