Structural and functional characterization of a missense mutant of human γS-crystallin associated with dominant infantile cataracts.
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DOI: 10.1016/j.bbrc.2018.10.187
Abstract: Infantile cataracts constitute one of the most important causes of childhood blindness worldwide. Human γS-crystallin is the most abundant protein in the eye lens cortex. A missense mutant of human γS-crystallin, Y67N (abbreviated hereafter as… read more here.
Keywords: infantile cataracts; missense mutant; mutant human; structural functional ... See more keywords