A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel’s syndrome) in three unrelated families

By Maestrini Elena  

Human Molecular Genetics, Vol. 8, Iss. 7, 1999-07 ,pp. : 1237-1243

Oxford University Press

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The connexin26 S17F mouse mutant represents a model for the human hereditary keratitisichthyosisdeafness syndrome

By Schtz Melanie   Auth Tanja   Gehrt Anna   Bosen Felicitas   Krber Inken   Strenzke Nicola   Moser Tobias   Willecke Klaus  

Human Molecular Genetics, Vol. 20, Iss. 1, 2011-01 ,pp. : 28-39

Oxford University Press

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Transgenic expression of a dominant-negative connexin26 causes degeneration of the organ of Corti and non-syndromic deafness

By Aoki Y.  

Human Molecular Genetics, Vol. 12, Iss. 9, 2003-05 ,pp. : 995-1004

Oxford University Press

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Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30

By Marziano N.K.  

Human Molecular Genetics, Vol. 12, Iss. 8, 2003-04 ,pp. : 805-812

Oxford University Press

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The conditional connexin43G138R mouse mutant represents a new model of hereditary oculodentodigital dysplasia in humans

By Dobrowolski Radoslaw   Sasse Philipp   Schrickel Jan W.   Watkins Marcus   Kim Jung-Sun   Rackauskas Mindaugas   Troatz Clemens   Ghanem Alexander   Tiemann Klaus   Degen Joachim   Bukauskas Feliksas F.   Civitelli Roberto   Lewalter Thorsten   Fleischmann Bernd K.   Willecke Klaus  

Human Molecular Genetics, Vol. 17, Iss. 4, 2008-02 ,pp. : 539-554

Oxford University Press

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