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Connexin50D47A Decreases Levels of Fiber Cell Connexins and Impairs Lens Fiber Cell Differentiation

8 Nov 2013

Abstract excerpt

PURPOSE: Substitutions of aspartate-47 (D47) of Connexin50 (Cx50) have been linked to autosomal dominant congenital cataracts in several human pedigrees. To elucidate the lens abnormalities caused by a substitution at this position, we studied No2 mice, which carry the Cx50D47A mutation and parallel the human pathology. METHODS: Lenses from mice of different ages (neonatal to 4 months) were examined by dark-field...

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PMID: 24204043
DOI: 10.1167/iovs.13-13188

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