Article
Functional characterization of a human aquaporin 0 mutation that leads to a congenital dominant lens cataract.
Experimental eye research - 1 Jul 2008
Varadaraj K, Kumari S S, Patil R, Wax M B, Mathias R T
Abstract excerpt
The aquaporin (AQP) transmembrane proteins facilitate the movement of water across the plasma membrane. In the lens, AQP0 is expressed in fiber cells and AQP1 in the epithelium. Recently, two individuals were identified with congenital polymorphic autosomal dominant cataract, due to a single nucl...
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