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Published in 2017 at "Human Mutation"
DOI: 10.1002/humu.23152
Abstract: We studied the structural effects of point mutations of a membrane protein that cause genetic disease. SLC4A11 is a membrane transport protein (OH−/H+/NH3/H2O) of basolateral corneal endothelium, whose mutations cause some cases of congenital hereditary…
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Keywords:
homology model;
dystrophy;
three dimensional;
corneal dystrophy ... See more keywords