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Mutations in connexin genes and disease

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Published in European Journal of Clinical Investigation. 2011, vol. 41, no. 1, p. 103-16
Abstract Connexins are a family of transmembrane proteins that are widely expressed in the human body. Connexins play an important role in cell-cell communication and homeostasis in various tissues by forming gap junction channels, which enable a direct passage of ions or metabolites from one cell to another. Twenty-one different connexins are expressed in humans, each having distinct expression patterns and regulation properties. Knowledge on this family of proteins can be gained by making an inventory of mutations and associated diseases in human.
Keywords Cell Communication/genetics/physiologyConnexins/genetics/physiologyDisease/etiology/geneticsGap Junctions/genetics/physiologyHumansMutation
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PMID: 20840374
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Research group L'athérosclérose (665)
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PFENNIGER, Anna, WOHLWEND, Annelise Isabelle, KWAK, Brenda. Mutations in connexin genes and disease. In: European Journal of Clinical Investigation, 2011, vol. 41, n° 1, p. 103-16. https://archive-ouverte.unige.ch/unige:24340

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Deposited on : 2012-12-05

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