Article
A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts.
Journal of medical genetics - 1 Mar 2008
Arora A, Minogue P J, Liu X, Addison P K, Russel-Eggitt I, Webster A R, Hunt D M, Ebihara L, Beyer E C, Berthoud V M, Moore A T
Abstract excerpt
PURPOSE: To screen for mutations of connexin50 (Cx50)/GJA8 in a panel of patients with inherited cataract and to determine the cellular and functional consequences of the identified mutation. METHODS: All patients in the study underwent a full clinical examination and leucocyte DNA was extracted from venous blood. The GJA8 gene was sequenced directly. Connexin function and cellular trafficking were examined by...
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