Genetic and Allelic Heterogeneity ofCrygMutations in Eight Distinct Forms of Dominant Cataract in the Mouse
Investigative Ophthalmology & Visual Science2004Vol. 45(4), pp. 1202–1202
Citations Over TimeTop 16% of 2004 papers
Abstract
In total, 20 mutations have been described that affect the Cryg gene cluster: Nine mutations affect the Cryge gene, but only one affects the Crygb or Crygf genes. No mutation was observed in the closely linked Cryba2. Two mutations occur at the same site in the Crygd and Cryge genes (Leu45-->Pro). The unequal distribution of mutations suggests hot spots in the Cryg genes. The overall high number of mutations in these genes demonstrates their central role in the maintenance of lens transparency.
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