A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts

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 fro...

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Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2007
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2756454/
https://ncbi.nlm.nih.gov/pubmed/18006672
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2007.051029
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